Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Neuron

Volumn 93, Issue 2, 2017, Pages 331-347

  Sellier, Chantal ^a   Buijsen, Ronald A M ^b   He, Fang ^c,d,e   Natla, Sam ^c   Jung, Laura ^a   Tropel, Philippe ^a   Gaucherot, Angeline ^a   Jacobs, Hugues ^a,f   Meziane, Hamid ^a,f   Vincent, Alexandre ^a   Champy, Marie France ^a,f   Sorg, Tania ^a,f   Pavlovic, Guillaume ^a,f   Wattenhofer Donze, Marie ^a,f   Birling, Marie Christine ^a,f   Oulad Abdelghani, Mustapha ^a   Eberling, Pascal ^a   Ruffenach, Frank ^a   Joint, Mathilde ^a   Anheim, Mathieu ^g   Martinez Cerdeno, Veronica ^h,i,j   Tassone, Flora ^j   Willemsen, Rob ^b   Hukema, Renate K ^b   Viville, Stéphane ^a,k,l   Martinat, Cecile ^m   Todd, Peter K ^c,d   Charlet Berguerand, Nicolas ^a,m,n   more..

^a UNIVERSITÉ DE STRASBOURG   (France)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF MICHIGAN   (United States)

^d Veteran Affairs Health System   (United States)

^e TEXAS A AND M UNIVERSITY KINGSVILLE   (United States)

^f INSTITUT CLINIQUE DE LA SOURIS   (France)

^g HÔPITAL DE HAUTEPIERRE   (France)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ SHRINERS HOSPITALS FOR CHILDREN NORTHERN CALIFORNIA   (United States)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k HÔPITAL CIVIL   (France)

^l IPPTS   (France)

^m INSERM   (France)

ⁿ CNRS   (France)

more..

Author keywords

microsatellite expansion; near cognate codon; neurodegeneration; RAN translation

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GLYCINE; MEMBRANE PROTEIN; POLYGLYCINE PROTEIN; PROTEIN LAP2BETA; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; FMR1 PROTEIN, HUMAN; LAMINA-ASSOCIATED POLYPEPTIDE 2; MESSENGER RNA; PEPTIDE; POLYGLYCINE;

5' UNTRANSLATED REGION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATAXIA; CELL DEATH; CELL DIFFERENTIATION; CGG REPEAT; CODON; CONTROLLED STUDY; FMR1 GENE; FRAGILE X SYNDROME; GENE; GENE EXPRESSION; HUMAN; HUMAN TISSUE; INDUCED PLURIPOTENT STEM CELL; LIQUID CHROMATOGRAPHY-MASS SPECTROMETRY; MALE; MOUSE; NERVE CELL; NONHUMAN; NUCLEAR LAMINA; NUCLEIC ACID STRUCTURE; OPEN READING FRAME; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN INTERACTION; TRANSCRIPTION INITIATION SITE; ANIMAL; BRAIN; GENETICS; METABOLISM; PATHOLOGY; PROTEIN SYNTHESIS; REAL TIME POLYMERASE CHAIN REACTION; TRANSGENIC MOUSE; TREMOR; TRINUCLEOTIDE REPEAT;

ANIMALS; ATAXIA; BRAIN; DNA-BINDING PROTEINS; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; MEMBRANE PROTEINS; MICE; MICE, TRANSGENIC; NUCLEAR LAMINA; PEPTIDES; PROTEIN BIOSYNTHESIS; REAL-TIME POLYMERASE CHAIN REACTION; RNA, MESSENGER; TREMOR; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 85008501947     PISSN: 08966273     EISSN: 10974199     Source Type: Journal    
DOI: 10.1016/j.neuron.2016.12.016     Document Type: Article

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