A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family-Reference-Cited by-同舟云学术

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A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family

Published:2020-12-01 Issue:1 Volume:144 Page:e11-e11
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Dong Hai-Lin¹²,Chen Lei¹²,Wu Zhi-Ying¹²^ORCID

Affiliation:

1. Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China

2. Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China

Funder

Zhejiang University

Fundamental Research Funds

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/144/1/e11/36247685/awaa357.pdf

Reference6 articles.

1. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy;Beijer;Brain,2019

2. Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues;Bennett;Physiol Rev,2001

3. Generation of diversity in nonerythroid spectrins. Multiple polypeptides are predicted by sequence analysis of cDNAs encompassing the coding region of human nonerythroid alpha-spectrin;Moon;J Biol Chem,1990

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

5. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay;Saitsu;Am J Hum Genet,2010

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1. Progressive Ataxia, Memory Impairments, and Seizure Episodes in Spna2 R1098Q Mouse Variant Affecting Alpha II Spectrin’s Scaffold Stability;Brain Sciences;2023-02-03

2. Spectrins: molecular organizers and targets of neurological disorders;Nature Reviews Neuroscience;2023-01-25

3. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia;Movement Disorders;2022-02-12

4. SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia;Journal of Human Genetics;2021-09-16

5. Pathophysiological Roles of Abnormal Axon Initial Segments in Neurodevelopmental Disorders;Cells;2021-08-17

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