Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia-Reference-Cited by-同舟云学术

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia

Published:2017-11 Issue: Volume:37 Page:46-54
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Schottmann Gudrun^ORCID,Picker-Minh Sylvie,Schwarz Jana Marie,Gill Esther^ORCID,Rodenburg Richard J.T.,Stenzel Werner,Kaindl Angela M.,Schuelke Markus

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference44 articles.

1. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement;Biancheri;J. Neurol.,2013

2. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia;Boczonadi;Nat. Commun.,2014

3. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size;Bond;Nat. Genet.,2005

4. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins;Calvo;Nucleic Acids Res.,2016

5. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients;Carrozzo;J. Inherit. Metab. Dis.,2016

Cited by 28 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation;Journal of Biological Chemistry;2024-08

2. Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia;Neurology Genetics;2024-06

3. Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation;2023-10-19

4. Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis;Neuropathology and Applied Neurobiology;2023-07-18

5. Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review;Cureus;2023-05-19