ALDH18A1gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism-Reference-Cited by-同舟云学术

ALDH18A1gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Published:2015-08-21 Issue:1 Volume:139 Page:e3-e3
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

Author:

Panza Emanuele,Escamilla-Honrubia Juan M.,Marco-Marín Clara,Gougeard Nadine,De Michele Giuseppe,Morra Vincenzo Brescia,Liguori Rocco,Salviati Leonardo,Donati Maria Alice,Cusano Roberto,Pippucci Tommaso,Ravazzolo Roberto,Németh Andrea H.,Smithson Sarah,Davies Sally,Hurst Jane A.,Bordo Domenico,Rubio Vicente,Seri Marco

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/139/1/e3/7484492/awv247.pdf

Reference26 articles.

1. Participation of ornithine aminotransferase in the synthesis and catabolism of ornithine in mice. Studies using gabaculine and arginine deprivation

2. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta1-pyrroline-5-carboxylate synthase

3. Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

4. A versatile ligation-independent cloning method suitable for high-throughput expression screening applications

5. A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

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