(Q28268861)

N-acylsphingosine amidohydrolase (acid ceramidase) 1b

inferred from title

1 reference

GOA release 2020-03-11

1 reference

1 reference

16

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Nathalie Andrieu-Abadie

13

Nathalie Andrieu-Abadie

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Flora Nolent

Flora Nolent

6

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Francesc Castro-giner

Francesc Castro-Giner

10

0 references

Enrico Bertini

Enrico Bertini

9

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Judith Melki

17

Judith Melki

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author name string

Jie Zhou

1

0 references

Marcel Tawk

2

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Francesco Danilo Tiziano

3

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Julien Veillet

4

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Monica Bayes

5

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Virginie Garcia

7

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Serenella Servidei

8

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Yavuz Renda

11

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Stéphane Carpentier

12

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Ivo Gut

14

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Thierry Levade

American Journal of Human Genetics

15

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language of work or name

English

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publication date

13 July 2012

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published in

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volume

91

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issue

1

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page(s)

5-14

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describes a project that uses

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3397266/fullTextXML

inferred from PubMed Central ID database lookup

cites work

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

The Sequence Alignment/Map format and SAMtools

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Effective targeted gene 'knockdown' in zebrafish

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Identification and characterization of a spinal muscular atrophy-determining gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

ESEfinder: A web resource to identify exonic splicing enhancers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Acid ceramidase expression modulates the sensitivity of A375 melanoma cells to dacarbazine

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Autologous transplantation of lentivector/acid ceramidase-transduced hematopoietic cells in nonhuman primates

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Determination of ceramides and diglycerides by the diglyceride kinase assay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Retrovirus-mediated correction of the metabolic defect in cultured Farber disease cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Hereditary myoclonus and progressive distal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Ceramides in a Patient with Lipogranulomatosis (Farber's Disease) with Chronic Course

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Bone marrow transplantation for infantile ceramidase deficiency (Farber disease).

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Neural degeneration mutants in the zebrafish, Danio rerio.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397266

Pathfinding by identified zebrafish motoneurons in the absence of muscle pioneers

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22703880

12 December 2020

inferred from PubMed ID database lookup

Natural ceramide is unable to escape the lysosome, in contrast to a fluorescent analogue

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22703880

12 December 2020