A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins

Journal of Neurology

Volumn 254, Issue 5, 2007, Pages 624-630

  Kotani, Tomohiro ^a   Sutomo, Retno ^a   Sasongko, Teguh Haryo ^a   Sadewa, Ahmad Hamim ^a   Gunadi, ^a   Minato, Toshinori ^b   Fujii, Emiko ^c   Endo, Shoichi ^c   Lee, Myeong Jin ^a   Ayaki, Hitoshi ^a   Harada, Yosuke ^a   Matsuo, Masafumi ^a   Nishio, Hisahide ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Toyooka Hospital   (Japan)

^c National Hospital Organization   (Japan)

Author keywords

Fibrillarin; SmB; SMN1; Spinal muscular atrophy; Tudor domain

Indexed keywords

FIBRILLARIN; PROTEIN; PROTEIN SMB; SERINE; SURVIVAL MOTOR NEURON PROTEIN; TRYPTOPHAN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; BINDING ASSAY; CASE REPORT; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; IN VITRO STUDY; JAPANESE; MALE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; PROTEIN TARGETING; SCHOOL CHILD;

AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOMAL PROTEINS, NON-HISTONE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; NERVE TISSUE PROTEINS; RADIOLIGAND ASSAY; RNA-BINDING PROTEINS; SERINE; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; TRYPTOPHAN;

EID: 34249085918     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0410-x     Document Type: Article

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