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Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype

Cell death & disease, 2022-02, Vol.13 (2), p.185-185, Article 185

2022

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A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy

Journal of human genetics, 2021-08, Vol.66 (8), p.835-840

2021

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Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

Antioxidants & redox signaling, 2011-07, Vol.15 (2), p.353

2011

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Inborn errors of coenzyme A metabolism and neurodegeneration

Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.49-56

2019

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Classification and molecular pathogenesis of NBIA syndromes

European journal of paediatric neurology, 2018-03, Vol.22 (2), p.272-284

2018

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Mitochondrial Transplantation in Mitochondrial Medicine: Current Challenges and Future Perspectives

International journal of molecular sciences, 2023-01, Vol.24 (3), p.1969

2023

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Transcription Factor EB Controls Metabolic Flexibility during Exercise

Cell metabolism, 2017-01, Vol.25 (1), p.182-196

2017

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Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

EMBO molecular medicine, 2015-10, Vol.7 (10), p.1257-1266

2015

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Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments

International journal of molecular sciences, 2023-03, Vol.24 (6), p.5951

2023

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Inborn errors of coenzyme A metabolism and neurodegeneration

Journal of inherited metabolic disease, 2018-05, p.1-7

2018

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Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

Human mutation, 2020-10, Vol.41 (10), p.1745-1750

2020

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Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy

EMBO molecular medicine, 2012-09, Vol.4 (9), p.1008-1014

2012

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Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

Nature medicine, 2009-02, Vol.15 (2), p.200-205

2009

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Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective

Pharmaceutics, 2022-06, Vol.14 (6), p.1287

2022

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Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration

International journal of molecular sciences, 2020-05, Vol.21 (10), p.3664

2020

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PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation

Frontiers in cellular neuroscience, 2022-06, Vol.16, p.878103-878103

2022

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Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.229-229, Article 229

2021

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Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model

International journal of molecular sciences, 2020-12, Vol.21 (24), p.9707

2020

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Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

EMBO molecular medicine, 2017-01, Vol.9 (1), p.96-111

2017

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Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives

Frontiers in neurology, 2021-06, Vol.12, p.648916-648916

2021

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Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

Neurogenetics, 2021-10, Vol.22 (4), p.347-351

2021

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Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways

Communications biology, 2018-01, Vol.1 (1), p.194-194, Article 194

2018

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Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease

Human mutation, 2018-04, Vol.39 (4), p.563-578

2018

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Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

Scientific reports, 2017-09, Vol.7 (1), p.11260-12, Article 11260

2017

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PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in hiPS-Derived Astrocytes

Pharmaceutics, 2023-01, Vol.15 (1), p.202

2023

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Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype

A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

Inborn errors of coenzyme A metabolism and neurodegeneration

Classification and molecular pathogenesis of NBIA syndromes

Mitochondrial Transplantation in Mitochondrial Medicine: Current Challenges and Future Perspectives

Transcription Factor EB Controls Metabolic Flexibility during Exercise

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments

Inborn errors of coenzyme A metabolism and neurodegeneration

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration

PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation

Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient

Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives

Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways

Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease

Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in hiPS-Derived Astrocytes

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