EIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Molecular Cell

Volumn 48, Issue 4, 2012, Pages 641-646

  Borck, Guntram ^a   Shin, Byung Sik ^b   Stiller, Barbara ^a   Mimouni Bloch, Aviva ^c,d   Thiele, Holger ^e   Kim, Joo Ran ^b   Thakur, Meghna ^b   Skinner, Cindy ^g   Aschenbach, Lara ^a   Smirin Yosef, Pola ^d   Har Zahav, Adi ^d   Nürnberg, Gudrun ^e   Altmüller, Janine ^e   Frommolt, Peter ^e,f   Hofmann, Kay ^f   Konen, Osnat ^k   Nürnberg, Peter ^e,f   Munnich, Arnold ^h   Schwartz, Charles E ^g   Gothelf, Doron ^d,i   Colleaux, Laurence ^h   Dever, Thomas E ^b   Kubisch, Christian ^a   Basel Vanagaite, Lina ^d,j,k   more..

^a UNIVERSITY OF ULM   (Germany)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c LOEWENSTEIN REHABILITATION HOSPITAL   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e UNIVERSITY OF COLOGNE   (Germany)

^f UNIVERSITY OF COLOGNE   (Germany)

^g GREENWOOD GENETIC CENTER   (United States)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ SHEBA MEDICAL CENTER   (Israel)

^j RABIN MEDICAL CENTER   (Israel)

^k SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON;

ARTICLE; CASE REPORT; CODON; GENE OVEREXPRESSION; GENETIC SELECTION; HUMAN; IN VIVO STUDY; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MISSENSE MUTATION; PROTEIN BINDING; PROTEIN FUNCTION; TRANSLATION INITIATION; YEAST;

AMINO ACID SEQUENCE; BASE SEQUENCE; EUKARYOTIC INITIATION FACTOR-2; HUMANS; INTELLECTUAL DISABILITY; MODELS, MOLECULAR; MUTATION, MISSENSE; PEPTIDE CHAIN INITIATION, TRANSLATIONAL; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS;

EID: 84870392659     PISSN: 10972765     EISSN: 10974164     Source Type: Journal    
DOI: 10.1016/j.molcel.2012.09.005     Document Type: Article

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