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Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

Nature communications, 2016-11, Vol.7 (1), p.13548-11, Article 13548

2016

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Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids

Advanced science, 2024-05, Vol.11 (18), p.e2307136-n/a

2024

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Comparing the mitochondrial signatures in ESCs and iPSCs and their neural derivations

Cell cycle (Georgetown, Tex.), 2022-10, Vol.21 (20), p.2206-2221

2022

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Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

PLoS genetics, 2014-06, Vol.10 (6), p.e1004424-e1004424

2014

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POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia

Experimental neurology, 2023-07, Vol.365, p.114429-114429, Article 114429

2023

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POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition

Cell cycle (Georgetown, Tex.), 2022-06, Vol.21 (11), p.1178-1193

2022

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Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives

Journal of visualized experiments, 2021-11 (177)

2021

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Molecular pathogenesis of polymerase gamma-related neurodegeneration

Annals of neurology, 2014-07, Vol.76 (1), p.66-81

2014

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The NAD + Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease

International journal of biological sciences, 2024, Vol.20 (4), p.1194-1217

2024

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Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

Brain (London, England : 1878), 2013-08, Vol.136 (Pt 8), p.2393-2404

2013

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Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation

International journal of biological sciences, 2024-01, Vol.20 (8), p.2860-2880

2024

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Mitochondrial function and pathology in status epilepticus

Epilepsia (Copenhagen), 2011-10, Vol.52 (s8), p.6-7

Bindoff, Laurence A.

2011

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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

Journal of medical genetics, 2023-01, Vol.60 (1), p.65-73

2023

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The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

Brain (London, England : 1878), 2006-07, Vol.129 (7), p.1685-1692

2006

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Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

Brain (London, England : 1878), 2012-12, Vol.135 (12), p.3627-3634

2012

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Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Human molecular genetics, 2016-03, Vol.25 (5), p.1031-1041

2016

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Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study

Brain pathology (Zurich, Switzerland), 2019-01, Vol.29 (1), p.97-113

2019

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OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

Human molecular genetics, 2010-08, Vol.19 (15), p.3043-3052

2010

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Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

Brain (London, England : 1878), 2010-05, Vol.133 (5), p.1428-1437

2010

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MT-ND5 Mutation Causing Exercise Intolerance Displays Intercellular Heteroplasmy and Rapid Shifts Between Generations

Human mutation, 2013-02, Vol.34 (2), p.292-295

2013

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Mitochondrial ataxias

Handbook of clinical neurology, 2018, Vol.155, p.129-141

2018

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Ataxia in mitochondrial disorders

Handbook of Clinical Neurology, 2012, Vol.103, p.359-372

2012

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Melas associated with mutations in the polg1 gene

Neurology, 2008-03, Vol.70 (13), p.1054; author reply 1054-1055

2008

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Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population

Mitochondrion, 2012-11, Vol.12 (6), p.640-643

2012

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Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy

Biochimica et biophysica acta, 2010-06, Vol.1802 (6), p.539-544

2010

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Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids

Comparing the mitochondrial signatures in ESCs and iPSCs and their neural derivations

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia

POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition

Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives

Molecular pathogenesis of polymerase gamma-related neurodegeneration

The NAD + Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation

Mitochondrial function and pathology in status epilepticus

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

MT-ND5 Mutation Causing Exercise Intolerance Displays Intercellular Heteroplasmy and Rapid Shifts Between Generations

Mitochondrial ataxias

Ataxia in mitochondrial disorders

Melas associated with mutations in the polg1 gene

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy

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