Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement-Reference-Cited by-同舟云学术

Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement

Published:2019-04 Issue:1 Volume:448 Page:36-47
ISSN:0012-1606
Container-title:Developmental Biology
language:en
Short-container-title:Developmental Biology

Author:

Bourgeois Justin R.,Ferland Russell J.

Funder

National Institutes of Health

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,Molecular Biology

Reference41 articles.

1. The calpain-calpastatin system and protein degradation in fusing myoblasts;Barnoy;Biochim. Biophys. Acta,1998

2. The role of calpastatin (the specific calpain inhibitor) in myoblast differentiation and fusion;Barnoy;Biochem. Biophys. Res. Commun.,1996

3. Cleavage of desmin by cysteine proteases: calpains and cathepsin B;Baron;Meat Sci.,2004

4. Joubert syndrome and related disorders;Brancati;Orphanet J. Rare Dis.,2010

5. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report;Chafai-Elalaoui;J. Med. Case Rep.,2015

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