Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Nature

Volumn 495, Issue 7442, 2013, Pages 467-473

  Kim, Hong Joo ^a   Kim, Nam Chul ^a   Wang, Yong Dong ^a   Scarborough, Emily A ^b   Moore, Jennifer ^a   Diaz, Zamia ^b   MacLea, Kyle S ^c   Freibaum, Brian ^a   Li, Songqing ^a   Molliex, Amandine ^a   Kanagaraj, Anderson P ^b   Carter, Robert ^a   Boylan, Kevin B ^d   Wojtas, Aleksandra M ^d   Rademakers, Rosa ^d   Pinkus, Jack L ^e   Greenberg, Steven A ^e   Trojanowski, John Q ^b   Traynor, Bryan J ^f   Smith, Bradley N ^b   Topp, Simon ^g   Gkazi, Athina Soragia ^g   Miller, Jack ^g   Shaw, Christopher E ^g   Kottlors, Michael ^h   Kirschner, Janbernd ^h   Pestronk, Alan ⁱ   Li, Yun R ^b   Ford, Alice Flynn ^b   Gitler, Aaron D ^j   Benatar, Michael ^k   King, Oliver D ^l   Kimonis, Virginia E ^m   Ross, Eric D ^c   Weihl, Conrad C ⁱ   Shorter, James ^b   Taylor, J Paul ^a   more..

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c Department of Environmental and Radiological Health Sciences   (United States)

^d MAYO GRADUATE SCHOOL   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f NATIONAL INSTITUTE ON AGING   (United States)

^g KING'S COLLEGE LONDON   (United Kingdom)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^l BOSTON BIOMEDICAL RESEARCH INSTITUTE   (United States)

^m UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2B1; UNCLASSIFIED DRUG;

ALGORITHM; AMINO ACID; BONE; BRAIN; CYTOPLASM; GENE EXPRESSION; MUSCLE; MUTATION; NERVOUS SYSTEM DISORDER; PATHOGEN; PATHOLOGY; PRION DISEASE; PROTEIN; YEAST;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BONE; BRAIN; CYTOPLASM; GENE MUTATION; HEREDITY; HUMAN; HUMAN TISSUE; MOTONEURON; MUSCLE; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN DOMAIN; PROTEIN MOTIF; PROTEINOPATHY;

AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; DROSOPHILA MELANOGASTER; FEMALE; FRONTOTEMPORAL DEMENTIA; HELA CELLS; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP A-B; HUMANS; INCLUSION BODIES; MALE; MICE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTANT PROTEINS; MUTATION; MYOSITIS, INCLUSION BODY; OSTEITIS DEFORMANS; PEPTIDE TERMINATION FACTORS; PRIONS; PROTEIN STRUCTURE, TERTIARY; RNA; SACCHAROMYCES CEREVISIAE PROTEINS;

ANIMALIA;

EID: 84875605133     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature11922     Document Type: Article

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