Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

European Journal of Neurology

Volumn 14, Issue 12, 2007, Pages 1322-1328

  Schickel, J ^a   Pamminger, T ^a   Ehrsam, A ^a   Munch S ^b   Huang, X ^c   Klopstock, T ^d   Kurlemann, G ^e   Hemmerich, P ^b   Dubiel, W ^c   Deufel, T ^a   Beetz, C ^a  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b FRITZ LIPMANN INSTITUTE   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Hereditary spastic paraplegia; Modifiers; Neurodegeneration; PEST sequence; Polymorphism; Protein stability; SPAST; Spastin

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; SPASTIN;

ALLELE; AMINO TERMINAL SEQUENCE; ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; HAPLOIDY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MUTATION; OLIGOMERIZATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN STABILITY; SPINAL CORD MOTONEURON;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGE OF ONSET; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN ISOFORMS; PROTEIN STRUCTURE, TERTIARY; SPASTIC PARAPLEGIA, HEREDITARY; VARIATION (GENETICS);

EID: 36248954921     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.01971.x     Document Type: Article

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