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Mutation in the PYK...
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families
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- Köhn, Linda, 1979- (författare)
- Umeå universitet,Medicinsk och klinisk genetik,Golovleva/Sandgren
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- Kadzhaev, Konstantin (författare)
- Umeå universitet,Medicinsk och klinisk genetik,Golovleva/Sandgren
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- Burstedt, Marie SI (författare)
- Umeå universitet,Oftalmiatrik,Golovleva/Sandgren
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- Haraldsson, Susann (författare)
- Umeå universitet,Medicinsk och klinisk genetik,Golovleva/Sandgren
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- Hallberg, Bengt (författare)
- Umeå universitet,Patologi,Hallberg
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- Sandgren, Ola (författare)
- Umeå universitet,Oftalmiatrik,Golovleva/Sandgren
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- Golovleva, Irina (författare)
- Umeå universitet,Medicinsk och klinisk genetik,Golovleva/Sandgren
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(creator_code:org_t)
- 2007-03-21
- 2007
- Engelska.
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Ingår i: European Journal of Human Genetics. - : Nature publishing group. - 1018-4813 .- 1476-5438. ; 15:6, s. 664-671
- Relaterad länk:
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Autosomal dominant cone dystrophy (CORD5) (MIM 600977) is a rare disease predominantly affecting cone photoreceptors. Here we refine the CORD5 locus previously mapped to 17p13 from 27 to 14.3 cM and identified a missense mutation, Q626H in the phosphatidylinositol transfer (PIT) membrane-associated protein (PITPNM3) (MIM 608921) in two Swedish families. PITPNM3, known as a human homologue of the Drosophila retinal degeneration B (rdgB), lacks the N-terminal PIT domain needed for transport of phospholipids, renewal of photoreceptors membrane and providing the electroretinogram (ERG) response to light. In our study, the mutation causing CORD5 is located in the C-terminal region interacting with a member of nonreceptor protein tyrosine kinases, PYK2. Our finding on the first mutation in the human homologue of Drosophila rdgB indicates novel pathways and a potential important role of the PITPNM3 in mammalian phototransduction.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- cone rod dystrophy; PITPNM3;rdgB; missense mutation
- Medical genetics
- Medicinsk genetik
- genetik
- Genetics
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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