ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Authors :: Panza E
Escamilla-Honrubia JM
Marco-Marín C
Gougeard N
De Michele G
Morra VB
Liguori R
Salviati L
Donati MA
Cusano R
Pippucci T
Ravazzolo R
Németh AH
Smithson S
Davies S
Hurst JA
Bordo D
Rubio V
Seri M
Source :: Brain : a journal of neurology [Brain] 2016 Jan; Vol. 139 (Pt 1), pp. e3. Date of Electronic Publication: 2015 Aug 21.
Publication Year :: 2016

Subjects :: Female
Humans
Male
Aldehyde Dehydrogenase genetics
Mutation genetics
Ornithine genetics
Ornithine metabolism
Spastic Paraplegia, Hereditary genetics

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