Achromatopsia mutations target sequential steps of ATF6 activation
نویسندگان
چکیده
منابع مشابه
Five novel CNGB3 gene mutations in Polish patients with achromatopsia
PURPOSE To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families. METHODS In this study, we investigated probands with a clinical diagnosis of ACHM. Ophthalmologic examinations, including visual acuity testing, color vision testing, and full-field electroretinography (ERG), were performed in all patients (with the exception of patient p4, who ...
متن کاملAchromatopsia caused by novel mutations in both CNGA3 and CNGB3.
C omplete achromatopsia or rod monochromatism is a stationary cone dystrophy, with an incidence of ,1 in 30 000, in which functional cones are absent from the retina. 2 Affected individuals usually present in infancy with nystagmus, poor visual acuity (6/60–6/36), photophobia, and complete colour blindness. Fundal examination is normal, but electroretinography reveals absent photopic (cone) res...
متن کاملCNGA3 mutations in two United Arab Emirates families with achromatopsia
PURPOSE ACHROMATOPSIA RESULTS FROM MUTATIONS IN ONE OF THREE GENES: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 (GNAT2). We report the responsible mutations in two United Arab Emirates families who have this autosomal recessive disease. METHODS Clinical exami...
متن کاملThe eIF2 kinase PERK and the integrated stress response facilitate activation of ATF6 during endoplasmic reticulum stress. Running title: The ISR facilitates activation of ATF6
The eIF2 kinase PERK and the integrated stress response facilitate activation of ATF6 during endoplasmic reticulum stress. Running title: The ISR facilitates activation of ATF6 Brian F. Teske, Sheree A. Wek, Piyawan Bunpo, Judy K. Cundiff, Jeanette N. McClintick, Tracy G. Anthony, and Ronald C. Wek Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianap...
متن کاملSeparate functions of gelsolin mediate sequential steps of collagen phagocytosis.
Collagen phagocytosis is a critical mediator of extracellular matrix remodeling. Whereas the binding step of collagen phagocytosis is facilitated by Ca2+-dependent, gelsolin-mediated severing of actin filaments, the regulation of the collagen internalization step is not defined. We determined here whether phosphatidylinositol-4,5-bisphosphate [PI(4,5)P2] regulation of gelsolin is required for c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2016
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.1606387114