Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia-Reference-Cited by-同舟云学术

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Published:2016-08-20 Issue:11 Volume:139 Page:2877-2890
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

Author:

Wan Jijun,Steffen Janos,Yourshaw Michael,Mamsa Hafsa,Andersen Erik,Rudnik-Schöneborn Sabine,Pope Kate,Howell Katherine B.,McLean Catriona A.,Kornberg Andrew J.,Joseph Jörg,Lockhart Paul J.,Zerres Klaus,Ryan Monique M.,Nelson Stanley F.,Koehler Carla M.,Jen Joanna C.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/139/11/2877/7510678/aww212.pdf

Reference25 articles.

1. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

2. Loss of PCLO function underlies pontocerebellar hypoplasia type III

3. Pontocerebellar hypoplasias

4. Import of mitochondrial proteins

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

Cited by 76 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. Identification of SLC25A46 interaction interfaces with mitochondrial membrane fusogens Opa1 and Mfn2;Journal of Biological Chemistry;2024-08

2. Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis;Movement Disorders Clinical Practice;2024-06-28

3. Mitochondrial membrane synthesis, remodelling and cellular trafficking;Journal of Inherited Metabolic Disease;2024-06-14

4. Unlocking mitochondrial drug targets: The importance of mitochondrial transport proteins;Acta Physiologica;2024-04-26

5. A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report;Frontiers in Pediatrics;2024-02-23