Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.
Fichera
M
M
Genetic Diagnostic Laboratory, IRCCS Oasi M. SS. Troina, Italy. mfichera@oasi.en.it
Lo Giudice
M
M
Falco
M
M
Sturnio
M
M
Amata
S
S
Calabrese
O
O
Bigoni
S
S
Calzolari
E
E
Neri
M
M
D019943:Amino Acid Substitution; D001665:Binding Sites; D002851:Chromatography, High Pressure Liquid; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D016547:Kinesins; D008126:Lod Score; D008297:Male; D008869:Microtubule-Associated Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D008870:Microtubules / Q000378:metabolism; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D025941:Protein Interaction Mapping; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
C500506:KIF5A protein, human; D008869:Microtubule-Associated Proteins; D016547:Kinesins