Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

Human Mutation

Volumn 34, Issue 3, 2013, Pages 525-537

  Romano, Alessandro ^a   Tessa, Alessandra ^b   Barca, Amilcare ^a   Fattori, Fabiana ^c   Fulvia de Leva, Maria ^d   Terracciano, Alessandra ^c   Storelli, Carlo ^a   Santorelli, Filippo Maria ^b   Verri, Tiziano ^a  

^a UNIVERSITY OF SALENTO   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS); Comparative protein analysis; Functional mapping of human mutations; Neurodegeneration; Protein domain architecture; Repeated domains; SACS; Sacsin

Indexed keywords

MEMBRANE PROTEIN; SACSIN INTERNAL REPEAT 1; SACSIN INTERNAL REPEAT 2; SACSIN INTERNAL REPEAT 3; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; COMPARATIVE GENE MAPPING; COMPARATIVE STUDY; DISEASE SEVERITY; FUNCTIONAL GENOMICS; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; HUMAN; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SACSIN REPEATING REGION; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME MAPPING; COMPUTATIONAL BIOLOGY; EXONS; HEAT-SHOCK PROTEINS; HUMANS; MUSCLE SPASTICITY; MUTATION; PHENOTYPE; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SPINOCEREBELLAR ATAXIAS;

EID: 84873956070     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22269     Document Type: Article

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