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Autor
Afriyie, Simone 1 Aggarwal, Vimla 1 Ajit, Deepa 1 Aretz, Stefan 1 Bay, Julia C 1 Becker, Jessica 1 Beltran, Adriana S 1 Beltran, Alvaro A 1 Bernier, Raphael A 1 Bier, Louise 1 Bierhals, Tatjana 1 Blevins, Amy 1 Breau, Keith A 1 Brilstra, Eva 1 Cacheiro, Pilar 1 Cogne, Benjamin 1 Cousin, Margot A 1 Creighton, Blake A 1 Cremer, Kirsten 1 Dontu, Sruthi 1
- Organizace
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Pracoviště
Bioinformatics Research and Developme... 1 Carolina Institute for Developmental ... 1 Center for Individualized Medicine Ma... 1 Clinical and Translational Sciences I... 1 Department of Biochemistry Medical Co... 1 Department of Biochemistry and Biophy... 1 Department of Biomedical and Health I... 1 Department of Cell Biology and Physio... 1 Department of Clinical Genetics Cambr... 1 Department of Clinical Genetics Erasm... 1 Department of Clinical Genomics Mayo ... 1 Department of Genetics University Med... 1 Department of Genetics University of ... 1 Department of Genome Sciences Univers... 1 Department of Neurology Charles Unive... 1 Department of Neurology Columbia Univ... 1 Department of Neurology University of... 1 Department of Pathology Yale Universi... 1 Department of Pediatrics Duke Univers... 1 Department of Pharmacology University... 1
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- Země - grant
- Grantová agentura
- Nejvíce citované
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Autor
Afriyie, Simone 1 Aggarwal, Vimla 1 Ajit, Deepa 1 Aretz, Stefan 1 Bay, Julia C 1 Becker, Jessica 1 Beltran, Adriana S 1 Beltran, Alvaro A 1 Bernier, Raphael A 1 Bier, Louise 1 Bierhals, Tatjana 1 Blevins, Amy 1 Breau, Keith A 1 Brilstra, Eva 1 Cacheiro, Pilar 1 Cogne, Benjamin 1 Cousin, Margot A 1 Creighton, Blake A 1 Cremer, Kirsten 1 Dontu, Sruthi 1
- Organizace
-
Pracoviště
Bioinformatics Research and Developme... 1 Carolina Institute for Developmental ... 1 Center for Individualized Medicine Ma... 1 Clinical and Translational Sciences I... 1 Department of Biochemistry Medical Co... 1 Department of Biochemistry and Biophy... 1 Department of Biomedical and Health I... 1 Department of Cell Biology and Physio... 1 Department of Clinical Genetics Cambr... 1 Department of Clinical Genetics Erasm... 1 Department of Clinical Genomics Mayo ... 1 Department of Genetics University Med... 1 Department of Genetics University of ... 1 Department of Genome Sciences Univers... 1 Department of Neurology Charles Unive... 1 Department of Neurology Columbia Univ... 1 Department of Neurology University of... 1 Department of Pathology Yale Universi... 1 Department of Pediatrics Duke Univers... 1 Department of Pharmacology University... 1
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PubMed
34211179
PubMed Central
PMC8273149
DOI
10.1038/s41588-021-00886-z
PII: 10.1038/s41588-021-00886-z
Knihovny.cz E-zdroje
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 heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features. We show that these SPTBN1 variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics. Our studies define SPTBN1 variants as the genetic basis of a neurodevelopmental syndrome, expand the set of spectrinopathies affecting the brain and underscore the critical role of βII-spectrin in the central nervous system.
- MeSH
- dominantní geny * MeSH
- fenotyp MeSH
- genetická predispozice k nemoci * MeSH
- genetická variace * MeSH
- genetické asociační studie metody MeSH
- heterozygot MeSH
- lidé MeSH
- myši MeSH
- neurovývojové poruchy diagnóza genetika MeSH
- spektrin genetika metabolismus MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Názvy látek
- spektrin MeSH
- SPTBN1 protein, human MeSH Prohlížeč
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