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Metabolic regulation of neurodifferentiation in the adult brain

Cellular and molecular life sciences : CMLS, 2020-07, Vol.77 (13), p.2483-2496

2020

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Microglia-specific overexpression of α-synuclein leads to severe dopaminergic neurodegeneration by phagocytic exhaustion and oxidative toxicity

Nature communications, 2021-10, Vol.12 (1), p.6237-15, Article 6237

2021

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SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

Nature communications, 2021-06, Vol.12 (1), p.4050-4050, Article 4050

2021

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Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

PLoS genetics, 2019-07, Vol.15 (7), p.e1008240-e1008240

2019

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Author Correction: Microglia-specific overexpression of α-synuclein leads to severe dopaminergic neurodegeneration by phagocytic exhaustion and oxidative toxicity

Nature communications, 2021-12, Vol.12 (1), p.7359-7359, Article 7359

2021

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Huntington’s disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids

Nature communications, 2024-08, Vol.15 (1), p.6534-19, Article 6534

2024

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Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate

Diabetes (New York, N.Y.), 2019-04, Vol.68 (4), p.709-723

2019

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Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

American journal of human genetics, 2015-11, Vol.97 (5), p.761-768

2015

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SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

Stem cell reports, 2019-04, Vol.12 (4), p.696-711

2019

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Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e654-n/a

2019

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C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis

Nucleic acids research, 2019-09, Vol.47 (17), p.9386

2019

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Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Journal of medical genetics, 2015-11, Vol.52 (11), p.779-783

2015

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Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7

Human mutation, 2021-04, Vol.42 (4), p.378-384

2021

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Metabolic Disorders : Genes and Mechanisms

Maffezzini, Camilla

2019

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Metabolic regulation of neurodifferentiation in the adult brain

Microglia-specific overexpression of α-synuclein leads to severe dopaminergic neurodegeneration by phagocytic exhaustion and oxidative toxicity

SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

Author Correction: Microglia-specific overexpression of α-synuclein leads to severe dopaminergic neurodegeneration by phagocytic exhaustion and oxidative toxicity

Huntington’s disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids

Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7

Metabolic Disorders : Genes and Mechanisms

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