(Q40316082)

19 September 2017

title

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy (English)

1 reference

Serine palmitoyltransferase long chain base subunit 2

19 September 2017

main subject

1 reference

sphingolipid biosynthetic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Emil Ylikallio

16

0 references

Henna Tyynismaa

object named as

Henna Tyynismaa

13

0 references

Angela Abicht

11

object named as

Angela Abicht

1 reference

19 September 2017

author name string

Saranya Suriyanarayanan

1

1 reference

19 September 2017

Mari Auranen

2

1 reference

19 September 2017

Jussi Toppila

3

1 reference

19 September 2017

Anders Paetau

4

1 reference

19 September 2017

Maria Shcherbii

5

1 reference

19 September 2017

Eino Palin

6

1 reference

19 September 2017

Yu Wei

7

1 reference

19 September 2017

Tarja Lohioja

8

1 reference

19 September 2017

Beate Schlotter-Weigel

9

1 reference

19 September 2017

Ulrike Schön

10

1 reference

19 September 2017

Bernd Rautenstrauss

12

1 reference

19 September 2017

Maggie C Walter

14

1 reference

19 September 2017

Thorsten Hornemann

15

1 reference

19 September 2017

publication date

16 November 2015

1 reference

19 September 2017

published in

NeuroMolecular Medicine

1 reference

19 September 2017

volume

18

1 reference

19 September 2017

issue

1

1 reference

19 September 2017

page(s)

81-90

1 reference

A method and server for predicting damaging missense mutations

19 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

Natural history and biomarkers in hereditary sensory neuropathy type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

Distribution and medical impact of loss-of-function variants in the Finnish founder population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

Plasma 1-deoxysphingolipids are predictive biomarkers for type 2 diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

Deoxysphingolipids, novel biomarkers for type 2 diabetes, are cytotoxic for insulin-producing cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

Lowering Plasma 1-Deoxysphingolipids Improves Neuropathy in Diabetic Rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-015-8379-1

Hereditary sensory neuropathies

21 January 2018

1 reference

12 December 2020

A quantitative method for the assessment of intraepidermal nerve fibers in small-fiber neuropathy

1 reference

12 December 2020

Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: Autopsy findings

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S12017-015-8379-1

Identifiers

DOI

1 reference

19 September 2017

1 reference