Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity (Q35079758)

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English	Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity	scientific article

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27 February 2020

Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity (English)

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27 February 2020

phosphorylation

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27 February 2020

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27 February 2020

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Mary M Reilly

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27 February 2020

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Daniela Ernst

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27 February 2020

Karthik Sathiyanadan

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27 February 2020

Yu Wei

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27 February 2020

Matilde Laurá

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27 February 2020

Yo-Tsen Liu

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27 February 2020

Anke Penno

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27 February 2020

Julian Blake

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27 February 2020

Michael Donaghy

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27 February 2020

Henry Houlden

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27 February 2020

Thorsten Hornemann

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27 February 2020

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8 January 2015

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27 February 2020

NeuroMolecular Medicine

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27 February 2020

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27 February 2020

1

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27 February 2020

47-57

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27 February 2020

copyright license

Creative Commons Attribution 4.0 International

8 January 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Topological and functional characterization of the ssSPTs, small activating subunits of serine palmitoyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis

1 reference

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8 July 2018

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

1 reference

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8 July 2018

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

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8 July 2018

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

1 reference

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8 July 2018

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Membranes in balance: mechanisms of sphingolipid homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Deoxysphingoid bases as plasma markers in diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Orm1 and Orm2 are conserved endoplasmic reticulum membrane proteins regulating lipid homeostasis and protein quality control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Orm family proteins mediate sphingolipid homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Structural insights into the enzymatic mechanism of serine palmitoyltransferase from Sphingobacterium multivorum

1 reference

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8 July 2018

Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Ceramide synthase inhibition by fumonisin B1 causes accumulation of 1-deoxysphinganine: a novel category of bioactive 1-deoxysphingoid bases and 1-deoxydihydroceramides biosynthesized by mammalian cell lines and animals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

The structure of serine palmitoyltransferase; gateway to sphingolipid biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Molecular characterization of membrane-associated soluble serine palmitoyltransferases from Sphingobacterium multivorum and Bdellovibrio stolpii

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Global, in vivo, and site-specific phosphorylation dynamics in signaling networks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326654

8 July 2018

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

1 reference

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27 September 2018

Lowering Plasma 1-Deoxysphingolipids Improves Neuropathy in Diabetic Rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/25567748

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma deoxysphingolipids: a novel class of biomarkers for the metabolic syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/25567748

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S12017-014-8339-1

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27 February 2020

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27 February 2020

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27 February 2020

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