Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome

Cerebellum

Volumn 15, Issue 5, 2016, Pages 552-564

  Napoli, Eleonora ^a   Song, Gyu ^a   Wong, Sarah ^a   Hagerman, Randi ^b,c   Giulivi, Cecilia ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Autism; Endophenotyes; Fragile X; Mitochondria; Mitochondrial network; Neurodegeneration; Premutation; Triplet nucleotide diseases

Indexed keywords

ADENOSINE TRIPHOSPHATE; CITRATE SYNTHASE; FRAGILE X MENTAL RETARDATION PROTEIN; MITOCHONDRIAL DNA; BIOLOGICAL MARKER; FMR1 PROTEIN, HUMAN; OXYGEN;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; AGE; ARTICLE; CGG REPEAT; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DEGENERATIVE DISEASE; DISEASE SEVERITY; ENDOPHENOTYPE; FMR1 GENE; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MIDDLE AGED; MITOCHONDRIAL RESPIRATION; OXIDATIVE PHOSPHORYLATION; OXYGEN CONSUMPTION; PREMUTATION; PRIORITY JOURNAL; SKIN FIBROBLAST; TRINUCLEOTIDE REPEAT; YOUNG ADULT; ATAXIA; CELL CULTURE; CHILD; DERMIS; FIBROBLAST; FRAGILE X SYNDROME; GENETICS; HETEROZYGOTE; METABOLISM; MITOCHONDRION; OXIDATIVE STRESS; PATHOLOGY; PHYSIOLOGY; PRODROMAL SYMPTOM; TREMOR;

ADENOSINE TRIPHOSPHATE; ADOLESCENT; ADULT; ATAXIA; BIOMARKERS; CELLS, CULTURED; CHILD; CITRATE (SI)-SYNTHASE; DERMIS; ENDOPHENOTYPES; FIBROBLASTS; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; OXIDATIVE STRESS; OXYGEN; PRODROMAL SYMPTOMS; TREMOR; TRINUCLEOTIDE REPEAT EXPANSION; YOUNG ADULT;

EID: 84964317408     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-016-0779-8     Document Type: Article

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