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Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice

Abstract:

Reversible detyrosination of tubulin, the building block of microtubules, is crucial for neuronal physiology. Enzymes responsible for detyrosination were recently identified as complexes of vasohibins (VASHs) one or two with small VASH-binding protein (SVBP). Here we report three consanguineous families, each containing multiple individuals with biallelic inactivation of SVBP caused by truncating variants (p.Q28∗ and p.K13Nfs∗18). Affected individuals show brain abnormalities with microcephal...

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Publication status:
Published
Peer review status:
Peer reviewed

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Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
ORCID:
0000-0001-7334-0602
More by this author
Role:
Author
ORCID:
0000-0002-3195-6692
More by this author
Role:
Author
ORCID:
0000-0002-0668-1252
Publisher:
Oxford University Press
Journal:
Human Molecular Genetics More from this journal
Volume:
28
Issue:
20
Pages:
3391-3405
Place of publication:
England
Publication date:
2019-07-31
Acceptance date:
2019-07-23
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Pmid:
31363758
Language:
English
Keywords:
Pubs id:
1039653
Local pid:
pubs:1039653
Deposit date:
2020-06-08

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