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Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy

Cells (Basel, Switzerland), 2023-03, Vol.12 (7), p.993

2023

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Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease

Cells (Basel, Switzerland), 2019-01, Vol.8 (1), p.65

2019

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Inflexibility of AMPK-mediated metabolic reprogramming in mitochondrial disease

Oncotarget, 2017-09, Vol.8 (43), p.73627-73639

2017

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Impact of Mitochondrial A3243G Heteroplasmy on Mitochondrial Bioenergetics and Dynamics of Directly Reprogrammed MELAS Neurons

Cells (Basel, Switzerland), 2022-12, Vol.12 (1), p.15

2022

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Impairment of Proteasome and Autophagy Underlying the Pathogenesis of Leukodystrophy

Cells (Basel, Switzerland), 2020-05, Vol.9 (5), p.1124

2020

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CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model

Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.367-377

2011

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Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

American journal of medical genetics. Part A, 2011-12, Vol.155 (12), p.3095-3099

2011

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A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1285-1289

2011

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Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

Kidney international, 2001-03, Vol.59 (3), p.846-854

2001

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De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay

Gene, 2014-01, Vol.533 (1), p.78-85

2014

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Sequence polymorphism in the coding region of mitochondrial genome encompassing position 8389–8865

Forensic science international, 2001-09, Vol.120 (3), p.204-209

2001

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Detection of Mycobacteria in Crohn's Disease by a Broad Spectrum Polymerase Chain Reaction

Journal of the Formosan Medical Association, 2006, Vol.105 (4), p.290-298

2006

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Does surgical resection of hepatocellular carcinoma accelerate cancer dissemination?

World journal of gastroenterology : WJG, 2004-01, Vol.10 (1), p.31

2004

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ND4 mutation in transitional cell carcinoma: Does mitochondrial mutation occur before tumorigenesis?

Mitochondrion, 2007-07, Vol.7 (4), p.273-278

2007

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Evolutional Analysis in Determining Pathogenic versus Nonpathogenic Mutations of ATPase 6 in Human Mitochondriopathy

Annals of the New York Academy of Sciences, 2005-05, Vol.1042 (1), p.19-24

2005

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Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g)

Muscle & nerve, 2003-11, Vol.28 (5), p.575-581

2003

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Detection of Mycobacteria in Crohn's Disease by a Broad Spectrum Polymerase Chain Reaction

Journal of the Formosan Medical Association, 2006-04, Vol.105 (4), p.290-298

2006

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Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA

Clinical neurology and neurosurgery, 2006-06, Vol.108 (4), p.407-410

2006

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Disseminated cutaneous infection with Mycobacterium kansasii: Genotyping versus phenotyping

Journal of the American Academy of Dermatology, 2001-10, Vol.45 (4), p.620-624

2001

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Induction of apoptosis in human leukemic U937 cells by tetrandrine

Anti-cancer drugs, 1998-01, Vol.9 (1), p.77-81

1998

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Melas with point mutations involving tRNA Leu (A3243G) and tRNA Glu (A14693g)

Muscle & nerve, 2003-11, Vol.28 (5), p.575-581

2003

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Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3,399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA

Clinical neurology and neurosurgery, 2006-06, Vol.108 (4), p.407-410

2006

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Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3399bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA

Clinical neurology and neurosurgery, 2006-06, Vol.108 (4), p.407-410

2006

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Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

Kidney international, 2001-03, Vol.59 (3), p.846-854

2001

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Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

American Journal of Medical Genetics Part A, 2011, Vol.155A (12), p.3095-3099

2011

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Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy

Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease

Inflexibility of AMPK-mediated metabolic reprogramming in mitochondrial disease

Impact of Mitochondrial A3243G Heteroplasmy on Mitochondrial Bioenergetics and Dynamics of Directly Reprogrammed MELAS Neurons

Impairment of Proteasome and Autophagy Underlying the Pathogenesis of Leukodystrophy

CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family

Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay

Sequence polymorphism in the coding region of mitochondrial genome encompassing position 8389–8865

Detection of Mycobacteria in Crohn's Disease by a Broad Spectrum Polymerase Chain Reaction

Does surgical resection of hepatocellular carcinoma accelerate cancer dissemination?

ND4 mutation in transitional cell carcinoma: Does mitochondrial mutation occur before tumorigenesis?

Evolutional Analysis in Determining Pathogenic versus Nonpathogenic Mutations of ATPase 6 in Human Mitochondriopathy

Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g)

Detection of Mycobacteria in Crohn's Disease by a Broad Spectrum Polymerase Chain Reaction

Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA

Disseminated cutaneous infection with Mycobacterium kansasii: Genotyping versus phenotyping

Induction of apoptosis in human leukemic U937 cells by tetrandrine

Melas with point mutations involving tRNA Leu (A3243G) and tRNA Glu (A14693g)

Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3,399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA

Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3399bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA

Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

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