Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

Human Reproduction

Volumn 31, Issue 1, 2016, Pages 158-168

  Buijsen, R A M ^a   Visser, J A ^a   Kramer, P ^a   Severijnen, E A W F M ^a   Gearing, M ^b   Charlet Berguerand, N ^c   Sherman, S L ^b   Berman, R F ^d   Willemsen, R ^a   Hukema, R K ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

CGG repeat; FMR1 premutation; FMRpolyG; FXPOI; FXTAS; HPG axis; Inclusions; Ovarian failure; RAN translation; Trinucleotide repeat expansion

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GLYCINE; UBIQUITIN; FMR1 PROTEIN, MOUSE; PEPTIDE; POLYGLYCINE;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CAG REPEAT; CELL NUCLEUS INCLUSION BODY; CONTROLLED STUDY; FEMALE; FRAGILE X ASSOCIATED PRIMARY OVARIAN INSUFFICIENCY; GENE EXPRESSION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MOUSE; NONHUMAN; OOCYTE; OVARIAN TISSUE; OVARY FUNCTION; OVARY INSUFFICIENCY; OVULATION; PROTEIN EXPRESSION; THECA CELL; ADULT; AGED; ANIMAL; ATAXIA; C57BL MOUSE; DISEASE MODEL; FRAGILE X SYNDROME; GENETICS; MALE; MIDDLE AGED; MUTATION; PREMATURE OVARIAN FAILURE; TREMOR; TRINUCLEOTIDE REPEAT;

ADULT; AGED; ANIMALS; ATAXIA; DISEASE MODELS, ANIMAL; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; INTRANUCLEAR INCLUSION BODIES; MALE; MICE; MICE, INBRED C57BL; MIDDLE AGED; MUTATION; PEPTIDES; PRIMARY OVARIAN INSUFFICIENCY; TREMOR; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84957550086     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dev280     Document Type: Article

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