UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia

PLoS ONE

Volumn 11, Issue 2, 2016, Pages

  Duan, Ranhui ^b   Shi, Yuting ^a   Yu, Li ^b   Zhang, Gehan ^b   Li, Jia ^b   Lin, Yunting ^b   Guo, Jifeng ^a,b   Wang, Junling ^a,b   Shen, Lu ^a,b   Jiang, Hong ^a,b   Wang, Guanghui ^c   Tang, Beisha ^a,b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c SOOCHOW UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; PROTEIN; UBA5 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE; UFM1 PROTEIN, HUMAN;

ADULT; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CHINESE; CONTROLLED STUDY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DROSOPHILA; EMBRYO; EXOME; FEMALE; GENE; GENE ACTIVATION; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; NEUROLOGIC GAIT DISORDER; NEUROMUSCULAR SYNAPSE; NONHUMAN; PHENOTYPE; SIBLING; UBA5 GENE; UFM1 GENE; WHOLE EXOME SEQUENCING; AMINO ACID SEQUENCE; ANIMAL; DNA MUTATIONAL ANALYSIS; DROSOPHILA MELANOGASTER; ENZYME STABILITY; ENZYMOLOGY; GENE EXPRESSION; GENETIC ASSOCIATION STUDY; GENETICS; HALF LIFE TIME; HEK293 CELL LINE; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; PROTEIN TRANSPORT; RECESSIVE GENE;

ADULT; AMINO ACID SEQUENCE; ANIMALS; CEREBELLAR ATAXIA; DNA MUTATIONAL ANALYSIS; DROSOPHILA MELANOGASTER; ENZYME STABILITY; FEMALE; GENE EXPRESSION; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HALF-LIFE; HEK293 CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN TRANSPORT; PROTEINS; UBIQUITIN-ACTIVATING ENZYMES;

EID: 84960532771     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0149039     Document Type: Article

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