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Dominant mutations in GRM1 cause spinocerebellar ataxia type 44

Abstract:

The metabotropic glutamate receptor 1 (mGluR1) is abundantly expressed in the mammalian central nervous system, where it regulates intracellular calcium homeostasis in response to excitatory signaling. Here, we describe heterozygous dominant mutations in GRM1, which encodes mGluR1, that are associated with distinct disease phenotypes: gain-of-function missense mutations, linked in two different families to adult-onset cerebellar ataxia, and a de novo truncation mutation resu...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1016/j.ajhg.2017.08.005

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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
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Institution:
University of Oxford
Department:
Oxford, MSD, Nuffield Department of Clinical Neurosciences
Role:
Author
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Department:
Oxford Medical Genetics Laboratories
Role:
Author
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Grant:
Marie Sklodowska-Curie grant agreement number 699978
John Fell Fund More from this funder
Action Medical Research More from this funder
Henry Smith Charity More from this funder
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Publisher:
Cell Press Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
101
Issue:
3
Pages:
451-458
Publication date:
2017-09-07
Acceptance date:
2017-07-25
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Pubs id:
pubs:726227
URN:
uri:81244f4b-b67c-4571-a272-06604ac763eb
UUID:
uuid:81244f4b-b67c-4571-a272-06604ac763eb
Local pid:
pubs:726227
Paper number:
3

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