(Q37347941)

19 August 2017

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy (English)

1 reference

19 August 2017

Alkaline ceramidase 3

1 reference

GOA release 2020-03-11

phytoceramidase activity

1 reference

GOA release 2020-03-11

author

Elly Kleinman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Simon Edvardson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Jae Kyo Yi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Chaim Jalas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Ruijuan Xu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Bryn D Webb

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Justin Snider

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Anastasia Fedick

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Nathan R Treff

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Cungui Mao

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Orly Elpeleg

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

20 January 2016

1 reference

Journal of Medical Genetics

19 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

389-396

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

The burden of inherited leukodystrophies in children

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Alkaline ceramidase 3 (ACER3) hydrolyzes unsaturated long-chain ceramides, and its down-regulation inhibits both cell proliferation and apoptosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Upregulation of the human alkaline ceramidase 1 and acid ceramidase mediates calcium-induced differentiation of epidermal keratinocytes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Golgi alkaline ceramidase regulates cell proliferation and survival by controlling levels of sphingosine and S1P

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Ceramidases in the regulation of ceramide levels and function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Cloning and characterization of a novel human alkaline ceramidase. A mammalian enzyme that hydrolyzes phytoceramide

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Cloning of an alkaline ceramidase from Saccharomyces cerevisiae. An enzyme with reverse (CoA-independent) ceramide synthase activity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Invited article: an MRI-based approach to the diagnosis of white matter disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

Fatty acid and fatty aldehyde composition of the major brain lipids in normal human gray matter, white matter, and myelin

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5068917

10.1136/JMEDGENET-2015-103457

2 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26792856%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

26792856

1 reference