(Q51804156)

English

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

scientific article published on 13 April 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Marianne Rohrbach

4

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Matthias R Baumgartner

7

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

author name string

Rita Kretz

1

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Bita Bozorgmehr

2

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Mohamad Hasan Kariminejad

3

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Ingrid Hausser

5

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Alessandra Baumer

6

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Cecilia Giunta

8

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Ariana Kariminejad

9

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Johannes Häberle

10

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

publication date

13 April 2011

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

34

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

3

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

731-739

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

https://scigraph.springernature.com/pub.10.1007/s10545-011-9319-3

0 references

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Proline modulates the intracellular redox environment and protects mammalian cells against oxidative stress

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Autosomal recessive cutis laxa syndrome revisited

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Studies on the development of ornithine–keto acid aminotransferase activity in rat liver

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Mutations in PYCR1 cause cutis laxa with progeroid features

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Cyclophilin A enhances vascular oxidative stress and the development of angiotensin II-induced aortic aneurysms

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9319-3

21 January 2018

Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21487760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/21487760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-011-9319-3

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21487760

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