Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

Human Molecular Genetics

Volumn 23, Issue 4, 2014, Pages 1013-1024

  Shi, Chang He ^a   Schisler, Jonathan C ^b,c   Rubel, Carrie E ^b   Tan, Song ^a   Song, Bo ^a   McDonough, Holly ^b   Xu, Lei ^b,d   Portbury, Andrea L ^c   Mao, Cheng Yuan ^a   True, Cadence ^e   Wang, Rui Hao ^a   Wang, Qing Zhi ^a   Sun, Shi Lei ^a   Seminara, Stephanie B ^e   Patterson, Cam ^b,c   Xu, Yu Ming ^a  

^a THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIVERSITY   (China)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF NORTH CAROLINA   (United States)

^d SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHIP PROTEIN; ESTRADIOL; PROGESTERONE; PROTEIN; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CEREBELLAR ATAXIA; CLINICAL ASSESSMENT; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DETERIORATION; DISEASE SEVERITY; DYSARTHRIA; ENZYME ACTIVITY; ESTRADIOL BLOOD LEVEL; EVOKED MUSCLE RESPONSE; EXOME; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GORDON HOLMES SYNDROME; HAND TREMOR; HUMAN; HYPOGONADISM; HYPOGONADOTROPIC HYPOGONADISM; HYPOPLASIA; LOSS OF FUNCTION MUTATION; MINI MENTAL STATE EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; PROGESTERONE BLOOD LEVEL; PROTEIN FUNCTION; PYRAMIDAL SIGN; SEXUAL DEVELOPMENT; SIBLING; TENDON REFLEX; UBIQUITINATION; UNSTEADY GAIT; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; CERCOPITHECUS AETHIOPS; CEREBELLAR ATAXIA; CEREBELLUM; COS CELLS; FEMALE; GENETIC ASSOCIATION STUDIES; GONADOTROPIN-RELEASING HORMONE; HUMANS; HYPOGONADISM; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;

EID: 84892971939     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt497     Document Type: Article

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