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Dokumenttyp:
Article; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
Cousin, Margot A; Creighton, Blake A; Breau, Keith A; Spillmann, Rebecca C; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J; Afriyie, Simone; Bay, Julia C; Harper, Kathryn M; Beltran, Alvaro A; Munoz, Lorena J; Falcon Rodriguez, Liset; Stankewich, Michael C; Person, Richard E; Si, Yue; Normand, Elizabeth A; Blevins, Amy; May, Alison S; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M S; van Slegtenhorst, Marjon A; Cremer, Kirsten; Becker, Jessica; Engels, Hartmu...     »
Titel:
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Abstract:
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 variants may also show measurable compromise of neural development and function. Here we identify...     »
Zeitschriftentitel:
Nat Genet
Jahr:
2021
Band / Volume:
53
Heft / Issue:
7
Seitenangaben Beitrag:
1006-1021
Volltext / DOI:
doi:10.1038/s41588-021-00886-z
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/34211179
Print-ISSN:
1061-4036
TUM Einrichtung:
1310; Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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