Manfredi, Giovanni

Publications

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selected publications

A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy. EMBO molecular medicine. 2023 Academic Article GET IT
High fat diet ameliorates the mitochondrial cardiomyopathy of CHCHD10 mutant mice. bioRxiv : the preprint server for biology. 2023 Article GET IT
The Human Activity Radar Challenge: benchmarking based on the 'Radar signatures of human activities' dataset from Glasgow University. IEEE journal of biomedical and health informatics. 2023 Academic Article GET IT
Sphingosine-1-phosphate controls endothelial sphingolipid homeostasis via ORMDL. EMBO reports. 2022 Academic Article GET IT
Times cited: 3
Gene expression profiles in sporadic ALS fibroblasts define disease subtypes and the metabolic effects of the investigational drug EH301. Human molecular genetics. 2022 Review GET IT
Times cited: 1
Effects of PB-TURSO on the transcriptional and metabolic landscape of sporadic ALS fibroblasts. Annals of clinical and translational neurology. 2022 Academic Article GET IT
Times cited: 2
Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2. Human molecular genetics. 2022 Academic Article GET IT
Times cited: 3
Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy. Cell reports. 2022 Academic Article GET IT
Times cited: 4
Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration. Cell. 2022 Academic Article GET IT
Times cited: 49
Doxycycline promotes proteasome fitness in the central nervous system. Scientific reports. 2021 Academic Article GET IT
Times cited: 3
Modulation of the IGF1R-MTOR pathway attenuates motor neuron toxicity of human ALS SOD1^G93A astrocytes. Autophagy. 2021 Academic Article GET IT
Times cited: 13
Raloxifene is a Female-specific Proteostasis Therapeutic in the Spinal Cord. Endocrinology. 2021 Academic Article GET IT
Times cited: 3
Better understanding the neurobiology of primary lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration. 2020 Review GET IT
Times cited: 2
Preface: promoting research in PLS: current knowledge and future challenges. Amyotrophic lateral sclerosis & frontotemporal degeneration. 2020 Editorial Article GET IT
Times cited: 4
Biocompatibility of a Conjugated Polymer Retinal Prosthesis in the Domestic Pig. Frontiers in bioengineering and biotechnology. 2020 Academic Article GET IT
Times cited: 672
Sex and oestrogen receptor β have modest effects on gene expression in the mouse brain posterior cortex. Endocrinology, diabetes & metabolism. 2020 Academic Article GET IT
Times cited: 8
Accelerated transsulfuration metabolically defines a discrete subclass of amyotrophic lateral sclerosis patients. Neurobiology of disease. 2020 Academic Article GET IT
Times cited: 9
Prohibitin S-Nitrosylation Is Required for the Neuroprotective Effect of Nitric Oxide in Neuronal Cultures. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2020 Academic Article GET IT
Times cited: 11
Proteasome mapping reveals sexual dimorphism in tissue-specific sensitivity to protein aggregations. EMBO reports. 2020 Academic Article GET IT
Times cited: 20
Prohibitin levels regulate OMA1 activity and turnover in neurons. Cell death and differentiation. 2019 Academic Article GET IT
Times cited: 30
Nrf2 signaling links ER oxidative protein folding and calcium homeostasis in health and disease. Life science alliance. 2019 Academic Article GET IT
Times cited: 19
ALS-FTLD-linked mutations of SQSTM1/p62 disrupt selective autophagy and NFE2L2/NRF2 anti-oxidative stress pathway. Autophagy. 2019 Academic Article GET IT
Times cited: 79
Redox-Dependent Loss of Flavin by Mitochondrial Complex I in Brain Ischemia/Reperfusion Injury. Antioxidants & redox signaling. 2019 Academic Article GET IT
Times cited: 34
ETHE1 overexpression promotes SIRT1 and PGC1α mediated aerobic glycolysis, oxidative phosphorylation, mitochondrial biogenesis and colorectal cancer. Oncotarget. 2019 Academic Article GET IT
Times cited: 11
Lipid Deprivation Induces a Stable, Naive-to-Primed Intermediate State of Pluripotency in Human PSCs. Cell stem cell. 2019 Academic Article GET IT
Times cited: 65
Mitochondrial Transport and Turnover in the Pathogenesis of Amyotrophic Lateral Sclerosis. Biology. 2019 Review GET IT
Times cited: 853
Distal denervation in the SOD1 knockout mouse correlates with loss of mitochondria at the motor nerve terminal. Experimental neurology. 2019 Academic Article GET IT
Times cited: 4
ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response. Acta neuropathologica. 2019 Academic Article GET IT
Times cited: 50
Sex Differences in Ischemia/Reperfusion Injury: The Role of Mitochondrial Permeability Transition. Neurochemical research. 2019 Review GET IT
Times cited: 13
The dependence of brain mitochondria reactive oxygen species production on oxygen level is linear, except when inhibited by antimycin A. Journal of neurochemistry. 2019 Academic Article GET IT
Times cited: 25
IRE1α-XBP1 controls T cell function in ovarian cancer by regulating mitochondrial activity. Nature. 2018 Academic Article GET IT
Times cited: 205
Parkin is a disease modifier in the mutant SOD1 mouse model of ALS. EMBO molecular medicine. 2018 Academic Article GET IT
Times cited: 43
Prohibitin is a positive modulator of mitochondrial function in PC12 cells under oxidative stress. Journal of neurochemistry. 2018 Academic Article GET IT
Times cited: 24
Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations. Cell metabolism. 2018 Academic Article GET IT
Times cited: 105
Critical Role of Flavin and Glutathione in Complex I-Mediated Bioenergetic Failure in Brain Ischemia/Reperfusion Injury. Stroke. 2018 Academic Article GET IT
Times cited: 57
Deactivation of mitochondrial complex I after hypoxia-ischemia in the immature brain. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2018 Academic Article GET IT
Times cited: 18
Estrogen receptor beta modulates permeability transition in brain mitochondria. Biochimica et biophysica acta. Bioenergetics. 2018 Academic Article GET IT
Times cited: 28
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions. Human molecular genetics. 2018 Academic Article GET IT
Times cited: 50
Correction: Proteinopathies and OXPHOS dysfunction in neurodegenerative diseases. The Journal of cell biology. 2017 Academic Article GET IT
Times cited: 1
Guidelines on experimental methods to assess mitochondrial dysfunction in cellular models of neurodegenerative diseases. Cell death and differentiation. 2017 Review GET IT
Times cited: 97
Proteinopathies and OXPHOS dysfunction in neurodegenerative diseases. The Journal of cell biology. 2017 Review GET IT
Times cited: 52
Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems. Annual review of pathology. 2017 Review GET IT
Times cited: 19
Fibroblast bioenergetics to classify amyotrophic lateral sclerosis patients. Molecular neurodegeneration. 2017 Academic Article GET IT
Times cited: 37
Distinct intracellular sAC-cAMP domains regulate ER Ca²⁺ signaling and OXPHOS function. Journal of cell science. 2017 Academic Article GET IT
Times cited: 21
The Mitochondrial Unfolded Protein Response as a Non-Oncogene Addiction to Support Adaptation to Stress during Transformation in Cancer and Beyond. Frontiers in oncology. 2017 Review GET IT
Times cited: 421
Neuronal expression of the mitochondrial protein prohibitin confers profound neuroprotection in a mouse model of focal cerebral ischemia. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2017 Academic Article GET IT
Times cited: 12
Mutant TDP-43 does not impair mitochondrial bioenergetics in vitro and in vivo. Molecular neurodegeneration. 2017 Academic Article GET IT
Times cited: 29
Selected mitochondrial DNA landscapes activate the SIRT3 axis of the UPR^mt to promote metastasis. Oncogene. 2017 Academic Article GET IT
Times cited: 64
Sex specific activation of the ERα axis of the mitochondrial UPR (UPRmt) in the G93A-SOD1 mouse model of familial ALS. Human molecular genetics. 2017 Academic Article GET IT
Times cited: 48
Discovery of LRE1 as a specific and allosteric inhibitor of soluble adenylyl cyclase. Nature chemical biology. 2016 Academic Article GET IT
Times cited: 55
Differential susceptibility of mitochondrial complex II to inhibition by oxaloacetate in brain and heart. Biochimica et biophysica acta. 2016 Academic Article GET IT
Times cited: 39
Alterations in voltage-sensing of the mitochondrial permeability transition pore in ANT1-deficient cells. Scientific reports. 2016 Academic Article GET IT
Times cited: 32
Energy deficit in parvalbumin neurons leads to circuit dysfunction, impaired sensory gating and social disability. Neurobiology of disease. 2016 Academic Article GET IT
Times cited: 66
Mitochondrial iron chelation ameliorates cigarette smoke-induced bronchitis and emphysema in mice. Nature medicine. 2016 Academic Article GET IT
Times cited: 163
Mitochondria and endoplasmic reticulum crosstalk in amyotrophic lateral sclerosis. Neurobiology of disease. 2015 Review GET IT
Times cited: 57
Exploring new pathways of neurodegeneration in ALS: the role of mitochondria quality control. Brain research. 2014 Review GET IT
Times cited: 63
Bioenergetic markers in skin fibroblasts of sporadic amyotrophic lateral sclerosis and progressive lateral sclerosis patients. Annals of neurology. 2014 Academic Article GET IT
Times cited: 27
A mitochondrial CO2-adenylyl cyclase-cAMP signalosome controls yeast normoxic cytochrome c oxidase activity. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2014 Academic Article GET IT
Times cited: 27
Role of soluble adenylyl cyclase in mitochondria. Biochimica et biophysica acta. 2014 Review GET IT
Times cited: 43
ROS-triggered phosphorylation of complex II by Fgr kinase regulates cellular adaptation to fuel use. Cell metabolism. 2014 Academic Article GET IT
Times cited: 89
Dichotomous effects of chronic intermittent hypoxia on focal cerebral ischemic injury. Stroke. 2014 Academic Article GET IT
Times cited: 35
Proteolytic cleavage of Opa1 stimulates mitochondrial inner membrane fusion and couples fusion to oxidative phosphorylation. Cell metabolism. 2014 Academic Article GET IT
Times cited: 296
SOD1, an unexpected novel target for cancer therapy. Genes & cancer. 2014 Review GET IT
Prohibitin viral gene transfer protects hippocampal CA1 neurons from ischemia and ameliorates postischemic hippocampal dysfunction. Stroke. 2014 Academic Article GET IT
Times cited: 28
Abnormal intracellular calcium signaling and SNARE-dependent exocytosis contributes to SOD1G93A astrocyte-mediated toxicity in amyotrophic lateral sclerosis. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2014 Academic Article GET IT
Times cited: 62
Imaging of mitochondrial dynamics in motor and sensory axons of living mice. Methods in enzymology. 2014 Academic Article GET IT
Times cited: 13
Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models. Human molecular genetics. 2013 Academic Article GET IT
Times cited: 234
UCP2 overexpression worsens mitochondrial dysfunction and accelerates disease progression in a mouse model of amyotrophic lateral sclerosis. Molecular and cellular neurosciences. 2013 Academic Article GET IT
Times cited: 27
Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration. 2013 Review GET IT
Times cited: 126
cAMP and mitochondria. Physiology (Bethesda, Md.). 2013 Review GET IT
Times cited: 126
Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation. Biochimica et biophysica acta. 2013 Academic Article GET IT
Times cited: 127
The negative impact of α-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2013 Academic Article GET IT
Times cited: 43
The mitochondrial calcium regulator cyclophilin D is an essential component of oestrogen-mediated neuroprotection in amyotrophic lateral sclerosis. Brain : a journal of neurology. 2012 Academic Article GET IT
Times cited: 51
Two protein kinase C isoforms, δ and ε, regulate energy homeostasis in mitochondria by transmitting opposing signals to the pyruvate dehydrogenase complex. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2012 Academic Article GET IT
Times cited: 18
Prohibitin reduces mitochondrial free radical production and protects brain cells from different injury modalities. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2012 Academic Article GET IT
Times cited: 73
Mitochondrial dynamics and bioenergetic dysfunction is associated with synaptic alterations in mutant SOD1 motor neurons. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2012 Academic Article GET IT
Times cited: 108
In vivo pathogenic role of mutant SOD1 localized in the mitochondrial intermembrane space. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2011 Academic Article GET IT
Times cited: 56
Turnover of ATP synthase subunits in F1-depleted HeLa and yeast cells. FEBS letters. 2011 Academic Article GET IT
Times cited: 13
Pink1 regulates the oxidative phosphorylation machinery via mitochondrial fission. Proceedings of the National Academy of Sciences of the United States of America. 2011 Academic Article GET IT
Times cited: 148
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy. Human molecular genetics. 2011 Academic Article GET IT
Times cited: 69
A phosphodiesterase 2A isoform localized to mitochondria regulates respiration. The Journal of biological chemistry. 2011 Academic Article GET IT
Times cited: 105
Hiding in plain sight: uncovering a new function of vitamin A in redox signaling. Biochimica et biophysica acta. 2011 Review GET IT
Times cited: 14
Protein phosphorylation and prevention of cytochrome oxidase inhibition by ATP: coupled mechanisms of energy metabolism regulation. Cell metabolism. 2011 Academic Article GET IT
Times cited: 146
adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria. Human molecular genetics. 2011 Academic Article GET IT
Times cited: 29
Introduction to neurodegenerative diseases and related techniques. Methods in molecular biology (Clifton, N.J.). 2011 Article GET IT
Times cited: 4
SOD1 targeted to the mitochondrial intermembrane space prevents motor neuropathy in the Sod1 knockout mouse. Brain : a journal of neurology. 2010 Academic Article GET IT
Times cited: 94
Import, maturation, and function of SOD1 and its copper chaperone CCS in the mitochondrial intermembrane space. Antioxidants & redox signaling. 2010 Review GET IT
Times cited: 105
Inhibition of human peptide deformylase disrupts mitochondrial function. Molecular and cellular biology. 2010 Academic Article GET IT
Times cited: 33
Regulation of intermediary metabolism by the PKCdelta signalosome in mitochondria. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2010 Academic Article GET IT
Times cited: 40
A kinetic assay of mitochondrial ADP-ATP exchange rate in permeabilized cells. Analytical biochemistry. 2010 Academic Article GET IT
Times cited: 26
Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells. Proceedings of the National Academy of Sciences of the United States of America. 2010 Academic Article GET IT
Times cited: 253
Mitochondrial dysfunction and intracellular calcium dysregulation in ALS. Mechanisms of ageing and development. 2010 Review GET IT
Times cited: 128
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. Human molecular genetics. 2010 Academic Article GET IT
Times cited: 58
Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import. Molecular biology of the cell. 2009 Academic Article GET IT
Times cited: 24
Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects. EMBO molecular medicine. 2009 Academic Article GET IT
Times cited: 92
Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells. Human molecular genetics. 2009 Academic Article GET IT
Times cited: 74
Control of oxidative phosphorylation by vitamin A illuminates a fundamental role in mitochondrial energy homoeostasis. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2009 Academic Article GET IT
Times cited: 65
Mutant SOD1 in neuronal mitochondria causes toxicity and mitochondrial dynamics abnormalities. Human molecular genetics. 2009 Academic Article GET IT
Times cited: 125
Mitochondrial function, morphology, and axonal transport in amyotrophic lateral sclerosis. Antioxidants & redox signaling. 2009 Review GET IT
Times cited: 101
Cyclic AMP produced inside mitochondria regulates oxidative phosphorylation. Cell metabolism. 2009 Academic Article GET IT
Times cited: 378
PINK1 defect causes mitochondrial dysfunction, proteasomal deficit and alpha-synuclein aggregation in cell culture models of Parkinson's disease. PloS one. 2009 Academic Article GET IT
Times cited: 117
Lysyl-tRNA synthetase is a target for mutant SOD1 toxicity in mitochondria. The Journal of biological chemistry. 2008 Academic Article GET IT
Times cited: 37
Different regulation of wild-type and mutant Cu,Zn superoxide dismutase localization in mammalian mitochondria. Human molecular genetics. 2008 Academic Article GET IT
Times cited: 114
The age lipid A2E and mitochondrial dysfunction synergistically impair phagocytosis by retinal pigment epithelial cells. The Journal of biological chemistry. 2008 Academic Article GET IT
Times cited: 128
The mitochondrial respiratory chain is a modulator of apoptosis. The Journal of cell biology. 2007 Academic Article GET IT
Times cited: 117
Merging mitochondria for neuronal survival. Nature medicine. 2007 Article GET IT
Times cited: 9
An assembled complex IV maintains the stability and activity of complex I in mammalian mitochondria. The Journal of biological chemistry. 2007 Academic Article GET IT
Times cited: 96
Overexpression of CCS in G93A-SOD1 mice leads to accelerated neurological deficits with severe mitochondrial pathology. Proceedings of the National Academy of Sciences of the United States of America. 2007 Academic Article GET IT
Times cited: 126
Assay of mitochondrial ATP synthesis in animal cells and tissues. Methods in cell biology. 2007 Review GET IT
Times cited: 87
Luciferase expression for ATP imaging: application to cardiac myocytes. Methods in cell biology. 2007 Review GET IT
Times cited: 23
Cell-permeable peptide antioxidants as a novel therapeutic approach in a mouse model of amyotrophic lateral sclerosis. Journal of neurochemistry. 2006 Academic Article GET IT
Times cited: 143
Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids. Human molecular genetics. 2006 Academic Article GET IT
Times cited: 105
The role of mitochondria in inherited neurodegenerative diseases. Journal of neurochemistry. 2006 Review GET IT
Times cited: 138
Mitochondrial dysfunction and amyotrophic lateral sclerosis. Muscle & nerve. 2006 Review GET IT
Times cited: 100
mtDNA clock runs out for dopaminergic neurons. Nature genetics. 2006 Comment GET IT
Times cited: 6
Neural mitochondrial Ca2+ capacity impairment precedes the onset of motor symptoms in G93A Cu/Zn-superoxide dismutase mutant mice. Journal of neurochemistry. 2006 Academic Article GET IT
Times cited: 193
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy. Biochemical and biophysical research communications. 2006 Academic Article GET IT
Times cited: 31
Enhanced ROS production and antioxidant defenses in cybrids harbouring mutations in mtDNA. Neuroscience letters. 2005 Academic Article GET IT
Times cited: 86
Mitochondrial dysfunction and its role in motor neuron degeneration in ALS. Mitochondrion. 2005 Review GET IT
Times cited: 175
Mutant superoxide dismutase 1 forms aggregates in the brain mitochondrial matrix of amyotrophic lateral sclerosis mice. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2005 Academic Article GET IT
Times cited: 197
Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis. Cancer research. 2005 Academic Article GET IT
Times cited: 234
Heterologous mitochondrial DNA recombination in human cells. Human molecular genetics. 2004 Academic Article GET IT
Times cited: 85
Poison and antidote: a novel model to study pathogenesis and therapy of LHON. Annals of neurology. 2004 Editorial Article GET IT
Times cited: 7
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants. Human molecular genetics. 2004 Academic Article GET IT
Times cited: 176
A chemical enucleation method for the transfer of mitochondrial DNA to rho(o) cells. Nucleic acids research. 2003 Academic Article GET IT
New insights into the bioenergetics of mitochondrial disorders using intracellular ATP reporters. Molecular biology of the cell. 2003 Academic Article GET IT
Times cited: 59
MTG1 codes for a conserved protein required for mitochondrial translation. Molecular biology of the cell. 2003 Academic Article GET IT
Times cited: 55
Mitochondrial DNA from platelets of sporadic ALS patients restores normal respiratory functions in rho(0) cells. Experimental neurology. 2003 Academic Article GET IT
Times cited: 31
Neuronal degeneration and mitochondrial dysfunction. The Journal of clinical investigation. 2003 Review GET IT
Times cited: 312
BCL-2 improves oxidative phosphorylation and modulates adenine nucleotide translocation in mitochondria of cells harboring mutant mtDNA. The Journal of biological chemistry. 2002 Academic Article GET IT
Times cited: 40
Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy. Annals of neurology. 2002 Academic Article GET IT
Times cited: 231
Stress-induced mitochondrial depolarization and oxidative damage in PSP cybrids. Brain research. 2002 Academic Article GET IT
Times cited: 27
Mutated human SOD1 causes dysfunction of oxidative phosphorylation in mitochondria of transgenic mice. The Journal of biological chemistry. 2002 Academic Article GET IT
Times cited: 477
Measurements of ATP in mammalian cells. Methods (San Diego, Calif.). 2002 Academic Article GET IT
Times cited: 195
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nature genetics. 2002 Academic Article GET IT
Times cited: 231
Sequence analysis of the entire mitochondrial genome in Parkinson's disease. Biochemical and biophysical research communications. 2002 Academic Article GET IT
Times cited: 67
Mitochondrial DNA and respiratory chain function in spinal cords of ALS patients. Journal of neurochemistry. 2002 Academic Article GET IT
Times cited: 275
In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I. The Journal of biological chemistry. 2001 Academic Article GET IT
Times cited: 65
Bcl-2 Suppresses Oxidative Phosphorylation Defects Caused by Mitochondrial DNA Mutations. TheScientificWorldJournal. 2001 Academic Article GET IT
Further evidence for mitochondrial dysfunction in progressive supranuclear palsy. Experimental neurology. 2001 Academic Article GET IT
Times cited: 61
Assay of mitochondrial ATP synthesis in animal cells. Methods in cell biology. 2001 Academic Article GET IT
Times cited: 26
Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines. Molecular biology of the cell. 2000 Academic Article GET IT
Times cited: 78
The role of mitochondria in the pathogenesis of neurodegenerative diseases. Brain pathology (Zurich, Switzerland). 2000 Review GET IT
Times cited: 99
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. 1999 GET IT
Times cited: 134
Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. The Journal of biological chemistry. 1999 Academic Article GET IT
Times cited: 94
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. 1998 GET IT
Times cited: 39
Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. 1998 GET IT
Times cited: 33
The fate of human sperm-derived mtDNA in somatic cells. American journal of human genetics. 1997 Academic Article GET IT
Times cited: 60
Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic? 1997 GET IT
Times cited: 64
Functional and structural features of a tandem duplication of the human mtDNA promoter region. American journal of human genetics. 1997 Academic Article GET IT
Times cited: 13
Functional involvement of central nervous system in mitochondrial disorders. Electroencephalography and clinical neurophysiology. 1997 Academic Article GET IT
Times cited: 12
Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR. Biochimica et biophysica acta. 1996 Academic Article GET IT
Times cited: 31
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy. 1996 GET IT
Times cited: 47
Partial block of glycolysis in late-onset phosphofructokinase deficiency myopathy. 1996 GET IT
Times cited: 13
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. 1995 GET IT
Times cited: 141
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. 1995 GET IT
Times cited: 101
High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy. 1995 GET IT
Times cited: 30
Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name. 1994 GET IT
Times cited: 50
Autosomal recessive hypermyelinating neuropathy. 1994 GET IT
Times cited: 14
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology. 1993 Academic Article GET IT
Times cited: 76
Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family. 1993 GET IT
Times cited: 25
Fatal infantile liver failure associated with mitochondrial DNA depletion. 1992 GET IT
Times cited: 100
Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology. 1991 Academic Article GET IT
Times cited: 99
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. 1991 GET IT
Times cited: 134

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Research

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Co-investigator Network

Funding awarded

Mitochondrial Integrated Stress Response In Neurological Diseases awarded by National Institute of Neurological Disorders & Stroke Principal Investigator 2021 - 2029
Amylyx SRA awarded by Amylyx Pharmaceuticals Principal Investigator 2023 - 2024
Mitochondrial Integrated Stress Response in Neurological Diseases awarded by National Institute of Neurological Disorders & Stroke Principal Investigator 2022 - 2024
Amylyx: amx0035 (PBA + TUDCA) mechanisms of action awarded by Amylyx Pharmaceuticals Principal Investigator 2020 - 2023

Role of prohibitin nitrosylation in its neuroprotective functions awarded by National Institute of Neurological Disorders & Stroke Co-Investigator 2022 - 2027
Sponsored Research Agreement awarded by Relmada Therapeutics Co-Investigator 2022 - 2023
Pathogenic mechanisms and therapeutic strategies for CHCHD10 ALS awarded by Project ALS, Inc. Co-Investigator 2021 - 2023

Genetic and metabolic strategies for mutant CHCHD10 neuromuscular disorders awarded by Muscular Dystrophy Associations of America, Inc. Key Personnel 2022 - 2025
Metabolic remodeling of skeletal muscle in mitochondrial myopathies awarded by National Inst of Arthritis & Musculoskeletal & Skin Diseases Key Personnel 2020 - 2025
Iron Homeostasis Alterations In Mutant CHCHD10 Mitochondria awarded by National Heart, Lung, & Blood Institute Key Personnel 2021 - 2024
Modulation Of Intermediate Metabolism, A New Therapeutic Approach For Mitochondrial Encephalomyopathies awarded by National Institute of Neurological Disorders & Stroke Key Personnel 2021 - 2023

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Background

education and training

Ph.D., Catholic University of the Sacred Heart Faculty of Medicine and Surgery (Italy) 1996
M.D., Catholic University of the Sacred Heart Faculty of Medicine and Surgery (Italy) 1989

VIVO Weill Cornell Medical College

Giovanni Manfredi Professor of Neuroscience

Publications

selected publications

Research

Funding awarded

Background

education and training

Contact

full name

primary email

Phone

Publications

selected publications

Research

Funding awarded

Background

education and training

Contact

full name

primary email