(Q39897416)

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A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

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Europe PubMed Central

PubMed publication ID

15 September 2017

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

Arnold von Eckardstein

8

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Arnold von Eckardstein

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Europe PubMed Central

PubMed publication ID

15 September 2017

author name string

Thorsten Hornemann

1

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

Anke Penno

2

1 reference

Europe PubMed Central

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15 September 2017

Stephane Richard

3

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

Garth Nicholson

4

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

Fleur S van Dijk

5

1 reference

Europe PubMed Central

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15 September 2017

Annelies Rotthier

6

1 reference

Europe PubMed Central

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15 September 2017

Vincent Timmerman

7

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Europe PubMed Central

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15 September 2017

publication date

9 January 2009

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Europe PubMed Central

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15 September 2017

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Europe PubMed Central

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15 September 2017

10

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Europe PubMed Central

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15 September 2017

2

1 reference

Europe PubMed Central

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15 September 2017

135-143

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0168-7

21 January 2018

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0168-7

21 January 2018

Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0168-7

21 January 2018

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0168-7

21 January 2018

Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0168-7

21 January 2018

Serine palmitoyl-CoA transferase (SPT) deficiency and sphingolipid levels in mice

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0168-7

21 January 2018

Alteration in sphingolipid metabolism: bioassays for fumonisin- and ISP-I-like activity in tissues, cells and other matrices

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary sensory neuropathy type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The structure of serine palmitoyltransferase; gateway to sphingolipid biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

novoSNP, a novel computational tool for sequence variation discovery

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serine palmitoyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mammalian cell mutants resistant to a sphingomyelin-directed cytolysin. Genetic and biochemical evidence for complex formation of the LCB1 protein with the LCB2 protein for serine palmitoyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recent advances in hereditary sensory and autonomic neuropathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/19132419

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-008-0168-7

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

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