ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism (Q28115823)

identical protein binding

GOA release 2020-03-11

1 reference

Juan M. Escamilla-Honrubia

GOA release 2020-03-11

author

Juan M. Escamilla-Honrubia

2

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Clara Marco-Marín

Clara Marco-Marín

3

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Emanuele Panza

Emanuele Panza

1

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Vicente Rubio

Vicente Rubio

18

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Marco Seri

Marco Seri

19

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Rocco Liguori

Rocco Liguori

7

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Sally Davies

15

Sally Davies

1 reference

4 January 2017

11

Tommaso Pippucci

1 reference

4 January 2017

10

Roberto Cusano

1 reference

4 January 2017

12

Roberto Ravazzolo

1 reference

4 January 2017

Nadine Gougeard

4

1 reference

4 January 2017

Giuseppe De Michele

5

1 reference

4 January 2017

Vincenzo Brescia Morra

6

1 reference

4 January 2017

Leonardo Salviati

8

1 reference

4 January 2017

Maria Alice Donati

9

1 reference

4 January 2017

Andrea H. Németh

13

1 reference

4 January 2017

Sarah Smithson

14

1 reference

4 January 2017

Jane A. Hurst

16

1 reference

4 January 2017

Domenico Bordo

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

17

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4 January 2017

language of work or name

English

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publication date

1 January 2016

1 reference

4 January 2017

1 reference

4 January 2017

139

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4 January 2017

e3

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4 January 2017

Pt 1

1 reference

4 January 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

A novel two-domain architecture within the amino acid kinase enzyme family revealed by the crystal structure of Escherichia coli glutamate 5-kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Glutamate-5-kinase from Escherichia coli: gene cloning, overexpression, purification and crystallization of the recombinant enzyme and preliminary X-ray studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Detection of nonneutral substitution rates on mammalian phylogenies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Improving baculovirus recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV247