Cargando…

IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy

OBJECTIVE: To determine the molecular factors contributing to progressive cavitating leukoencephalopathy (PCL) to help resolve the underlying genotype-phenotype associations in the mitochondrial iron-sulfur cluster (ISC) assembly system. METHODS: The subjects were 3 patients from 2 families who show...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ishiyama, Akihiko, Sakai, Chika, Matsushima, Yuichi, Noguchi, Satoru, Mitsuhashi, Satomi, Endo, Yukari, Hayashi, Yukiko K., Saito, Yoshiaki, Nakagawa, Eiji, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki, Sato, Noriko, Nonaka, Ikuya, Goto, Yu-ichi, Nishino, Ichizo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591399/ https://www.ncbi.nlm.nih.gov/pubmed/28913435 http://dx.doi.org/10.1212/NXG.0000000000000184

Ejemplares similares

A nationwide survey on Marinesco-Sjögren syndrome in Japan
por: Goto, Masahide, et al.
Publicado: (2014)

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
por: Ishiyama, Akihiko, et al.
Publicado: (2018)

Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome
por: Termglinchan, Thanes, et al.
Publicado: (2016)

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy
por: Noguchi, Satoru, et al.
Publicado: (2016)

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
por: Okubo, Mariko, et al.
Publicado: (2017)

Milder forms of muscular dystrophy associated with POMGNT2 mutations
por: Endo, Yukari, et al.
Publicado: (2015)

Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies
por: Momma, Kazunari, et al.
Publicado: (2012)

Cardiopulmonary dysfunction in patients with limb‐girdle muscular dystrophy 2A
por: Mori‐Yoshimura, Madoka, et al.
Publicado: (2016)

A novel IBA57 variant is associated with mitochondrial iron–sulfur protein deficiency and necrotizing myelopathy in dogs
por: Mandigers, Paul J. J., et al.
Publicado: (2023)

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
por: Okubo, Mariko, et al.
Publicado: (2016)

Correction: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
por: Okubo, Mariko, et al.
Publicado: (2017)

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations
por: Invernizzi, Federica, et al.
Publicado: (2014)

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
por: Ogasawara, Masashi, et al.
Publicado: (2022)

Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery
por: Nasta, Veronica, et al.
Publicado: (2019)

Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder
por: Alagia, Marianna, et al.
Publicado: (2020)

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy
por: Nishikawa, Atsuko, et al.
Publicado: (2019)

Data on the role of iba57p in free Fe(2+) release and O(2)(∙−) generation in Saccharomyces cerevisiae
por: Gomez-Gallardo, Mauricio, et al.
Publicado: (2018)

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
por: Inoue, Michio, et al.
Publicado: (2018)

The iron–sulfur cluster assembly (ISC) protein Iba57 executes a tetrahydrofolate-independent function in mitochondrial [4Fe–4S] protein maturation
por: Mühlenhoff, Ulrich, et al.
Publicado: (2022)

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation
por: Mori-Yoshimura, Madoka, et al.
Publicado: (2018)

The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation
por: Sheftel, Alex D., et al.
Publicado: (2012)

A Nationwide Survey on Danon Disease in Japan
por: Sugie, Kazuma, et al.
Publicado: (2018)

The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants
por: Becker, Nicole, et al.
Publicado: (2022)

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype
por: Liang, Wen-Chen, et al.
Publicado: (2015)

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
por: Okubo, Mariko, et al.
Publicado: (2020)

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
por: Melchionda, Laura, et al.
Publicado: (2014)

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy
por: Liu, Zhimei, et al.
Publicado: (2022)

Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report
por: Chapleau, Alexandra, et al.
Publicado: (2023)

Iba a decir que oscurece : diez años del Premio José Fuentes Mares /
Publicado: (1997)

A 7‐year‐old female with hypotonia and scoliosis
por: Saito, Yoshihiko, et al.
Publicado: (2022)

Availability of a Microglia and Macrophage Marker, Iba-1, for Differential Diagnosis of Spontaneous Malignant Reticuloses from Astrocytomas in Rats
por: Nakamura, Ryuichi, et al.
Publicado: (2013)

A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4
por: Sasaki-Honda, Mitsuru, et al.
Publicado: (2018)

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
por: Pippucci, Tommaso, et al.
Publicado: (2015)

Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L)()
por: Shinagawa, Austin, et al.
Publicado: (2020)

13th International Conference on Ion Beam Analysis - IBA-13
por: Breese, M B H, et al.
Publicado: (1998)

11th International Conference on Ion-beam Analysis : IBA-11
por: Gyulai, J, et al.
Publicado: (1993)

Segmented Iba1-Positive Processes of Microglia in Autism Model Marmosets
por: Sanagi, Tomomi, et al.
Publicado: (2019)

GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.
por: Takeuchi, Hirokazu, et al.
Publicado: (2021)

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp)
por: Hatakeyama, Hideyuki, et al.
Publicado: (2015)

The role of training in IBA implementation beyond primary health care settings in the UK
por: Thom, Betsy, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_s7qc3a7or6rddvrlncinsi3fkc