کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10833160 | 1065788 | 2015 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
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چکیده انگلیسی
Store-operated Ca2Â + entry is the major route of replenishment of intracellular Ca2Â + in animal cells in response to the depletion of Ca2Â + stores in the endoplasmic reticulum. It is primarily mediated by the Ca2Â +-selective release-activated Ca2Â + (CRAC) channel, which consists of the pore-forming subunits ORAI1-3 and the Ca2Â + sensors, STIM1 and STIM2. Recessive loss-of-function mutations in STIM1 or ORAI1 result in immune deficiency and nonprogressive myopathy. Heterozygous gain-of-function mutations in STIM1 cause non-syndromic myopathies as well as syndromic forms of miosis and myopathy with tubular aggregates and Stormorken syndrome; some of these syndromic forms are associated with thrombocytopenia. Increased concentration of Ca2Â + as a result of store-operated Ca2Â + entry is essential for platelet activation. The York Platelet syndrome (YPS) is characterized by thrombocytopenia, striking ultrastructural platelet abnormalities including giant electron-opaque organelles and massive, multilayered target bodies and deficiency of platelet Ca2Â + storage in delta granules. We present clinical and molecular findings in 7 YPS patients from 4 families, demonstrating that YPS patients have a chronic myopathy associated with rimmed vacuoles and heterozygous gain-of-function STIM1 mutations. These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 114, Issue 3, March 2015, Pages 474-482
Journal: Molecular Genetics and Metabolism - Volume 114, Issue 3, March 2015, Pages 474-482
نویسندگان
Thomas Markello, Dong Chen, Justin Y. Kwan, Iren Horkayne-Szakaly, Alan Morrison, Olga Simakova, Irina Maric, Jay Lozier, Andrew R. Cullinane, Tatjana Kilo, Lynn Meister, Kourosh Pakzad, William Bone, Sanjay Chainani, Elizabeth Lee, Amanda Links,