Achromatopsia mutations target sequential steps of ATF6 activation

Proceedings of the National Academy of Sciences of the United States of America

Volumn 114, Issue 2, 2017, Pages 400-405

  Chiang, Wei Chieh ^a   Chan, Priscilla ^a   Wissinger, Bernd ^b   Vincent, Ajoy ^c   Skorczyk Werner, Anna ^d   Krawczyński, MacIej R ^d,e   Kaufman, Randal J ^f   Tsang, Stephen H ^g,h,i   Héon, Elise ^c   Kohl, Susanne ^b   Lin, Jonathan H ^a,j  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF TORONTO   (Canada)

^d POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^e Center for Medical Genetics GENESIS   (Poland)

^f BURNHAM INSTITUTE   (United States)

^g Columbia University ^*  (United States)

^h NEW YORK PRESBYTERIAN HOSPITAL   (United States)

ⁱ VA San Diego Healthcare System ^*  (United States)

^j VA SAN DIEGO HEALTHCARE SYSTEM   (United States)

more..

Author keywords

Achromatopsia; ATF6; Cone photoreceptor; Endoplasmic reticulum stress; Unfolded protein response

Indexed keywords

ACTIVATING TRANSCRIPTION FACTOR 6; ATF6 PROTEIN, HUMAN; CHAPERONE;

BASIC LEUCINE ZIPPER MOTIF; COLOR BLINDNESS; CONFERENCE PAPER; CONTROLLED STUDY; EMBRYO; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; FIBROBLAST; GENE MUTATION; GOLGI COMPLEX; HEK293 CELL LINE; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; TRANSCRIPTION INITIATION; UNFOLDED PROTEIN RESPONSE; CELL DEATH; CELL LINE; COLOR VISION DEFECT; GENETIC TRANSCRIPTION; GENETICS; METABOLISM; MUTATION;

ACTIVATING TRANSCRIPTION FACTOR 6; CELL DEATH; CELL LINE; COLOR VISION DEFECTS; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; FIBROBLASTS; GOLGI APPARATUS; HEK293 CELLS; HUMANS; MOLECULAR CHAPERONES; MUTATION; TRANSCRIPTION, GENETIC;

EID: 85009344484     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1606387114     Document Type: Article

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