(Q37383444)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Barry A Chioza

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Christos Proukakis

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

Kamilla Schlade-Bartusiak

27 February 2020

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Frances Platt

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

author name string

Gaurav V Harlalka

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Emma L Baple

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Reza Maroofian

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Harold Cross

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Ajith Sreekantan-Nair

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

David A Priestman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Saeed Al-Turki

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Meriel E McEntagart

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Louise Royle

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Radoslaw P Kozak

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Laila Bastaki

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Michael Patton

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Karin Wagner

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Roselyn Coblentz

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Joy Price

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Michelle Mezei

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Matthew E Hurles

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Andrew H Crosby

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

language of work or name

English

0 references

publication date

7 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

136

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

issue

Pt 12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

page(s)

3618-3624

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

27 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Metabolic pathways and intracellular trafficking of gangliosides

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Hereditary spastic paraplegias: membrane traffic and the motor pathway

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Brain gangliosides in axon-myelin stability and axon regeneration.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Lysosomal disorders: from storage to cellular damage

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Treating lysosomal storage disorders: current practice and future prospects

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Per-O-methylation of neutral carbohydrates directly from aqueous samples for gas chromatography and mass spectrometry analysis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

The pathogenesis of glycosphingolipid storage disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Myelin-associated glycoprotein (Siglec-4) expression is progressively and selectively decreased in the brains of mice lacking complex gangliosides.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Enhanced insulin sensitivity in mice lacking ganglioside GM3.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Mice expressing only monosialoganglioside GM3 exhibit lethal audiogenic seizures.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Binding specificities of the sialoadhesin family of I-type lectins. Sialic acid linkage and substructure requirements for binding of myelin-associated glycoprotein, Schwann cell myelin protein, and sialoadhesin

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Both GA2, GM2, and GD2 synthases and GM1b, GD1a, and GT1b synthases are single enzymes in Golgi vesicles from rat liver

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labeling

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Elimination of oxidative degradation during the per-O-methylation of carbohydrates

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Gangliosides contribute to stability of paranodal junctions and ion channel clusters in myelinated nerve fibers

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859217

Functional organization of the Golgi apparatus in glycosphingolipid biosynthesis. Lactosylceramide and subsequent glycosphingolipids are formed in the lumen of the late Golgi

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24103911

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWT270

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

PubMed publication ID

24103911

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24103911%20AND%20SRC:MED&resulttype=core&format=json