RGD Reference Report - ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. - Rat Genome Database

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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-Marin, C  Gougeard, N  De Michele, G  Morra, VB  Liguori, R  Salviati, L  Donati, MA  Cusano, R  Pippucci, T  Ravazzolo, R  Nemeth, AH  Smithson, S  Davies, S  Hurst, JA  Bordo, D  Rubio, V  Seri, M 
Citation: Panza E, etal., Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21.
RGD ID: 11056004
Pubmed: PMID:26297558   (View Abstract at PubMed)
DOI: DOI:10.1093/brain/awv247   (Journal Full-text)

Abstract for this paper unavailable

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hereditary spastic paraplegia 9A  IAGP 11056004DNA:mutations:cds:p.V243L and p.R252Q(human)RGD 
hereditary spastic paraplegia 9A  ISOALDH18A1 (Homo sapiens)11056004; 11056004DNA:mutations:cds:p.V243L and p.R252Q(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Aldh18a1  (aldehyde dehydrogenase 18 family, member A1)

Genes (Mus musculus)
Aldh18a1  (aldehyde dehydrogenase 18 family, member A1)

Genes (Homo sapiens)
ALDH18A1  (aldehyde dehydrogenase 18 family member A1)


Additional Information