(Q35112485)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

Glucosylceramidase beta 2

21 December 2019

main subject

1 reference

glucosylceramide catabolic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Glucosidase beta 2

1 reference

GOA release 2020-03-11

author

David W. Russell

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Yildiz Yildiz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Heidrun Matern

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Bonne Thompson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Jeremy C Allegood

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Rebekkah L Warren

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Denise M O Ramirez

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Robert E Hammer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

F Kent Hamra

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Siegfried Matern

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

language of work or name

English

0 references

publication date

1 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

21 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

volume

116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

page(s)

2985-2994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

Molecular mechanisms and regulation of ceramide transport

21 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Sphingolipidomics: high-throughput, structure-specific, and quantitative analysis of sphingolipids by liquid chromatography tandem mass spectrometry

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

The cell biology of lysosomal storage disorders

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

New directions in the treatment of Gaucher disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Knockout of the cholesterol 24-hydroxylase gene in mice reveals a brain-specific mechanism of cholesterol turnover

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Sphingoid bases and de novo ceramide synthesis: enzymes involved, pharmacology and mechanisms of action

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Genetic disorders and infertility

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Reversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Production of transgenic rats by lentiviral transduction of male germ-line stem cells

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Lack of acrosome formation in mice lacking a Golgi protein, GOPC.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

A role for lipid shells in targeting proteins to caveolae, rafts, and other lipid domains

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

De novo sphingolipid biosynthesis: a necessary, but dangerous, pathway

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Molecular cloning and expression of human bile acid beta-glucosidase

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Lipid rafts and signal transduction

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Globozoospermia in mice lacking the casein kinase II alpha' catalytic subunit

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Targeting genes for self-excision in the germ line

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Enzyme replacement therapy for Gaucher's disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Purification and characterization of a microsomal bile acid beta-glucosidase from human liver

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Updating the sequence-based classification of glycosyl hydrolases

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Localization of secretory, membrane-associated and cytoskeletal proteins in rat testis using an improved immunocytochemical protocol that employs polyester wax.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Formation of bile acid glucosides by a sugar nucleotide-independent glucosyltransferase isolated from human liver microsomes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Inhibitors of the biosynthesis and processing of N-linked oligosaccharide chains

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Urinary excretion of bile acid glucosides and glucuronides in extrahepatic cholestasis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Long-term non-hormonal male contraception in mice using N-butyldeoxynojirimycin

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Novel class of glycosphingolipids involved in male fertility.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

High rate of premature chromosome condensation in human oocytes following microinjection with round-headed sperm: case report.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Search for mutations involved in human globozoospermia.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Alkylated imino sugars, reversible male infertility-inducing agents, do not affect the genetic integrity of male mouse germ cells during short-term treatment despite induction of sperm deformities

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Evaluation and treatment of familial globozoospermia in five brothers.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Aminopropyl solid phase extraction and 2 D TLC of neutral glycosphingolipids and neutral lysoglycosphingolipids

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Positions of conjugation of bile acids with glucose and N-acetylglucosamine in vitro.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626112

Isolation and Characterization of Glucocerebrosidase from Human Placental Tissue

27 September 2018

1 reference

12 December 2020

Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity

1 reference

12 December 2020

Evidence for bile acid glucosides as normal constituents in human urine

1 reference

12 December 2020

Beta-glucosidase activity towards a bile acid glucoside in human liver

1 reference

12 December 2020

Reevaluation and application of the dual-isotope plasma ratio method for the measurement of intestinal cholesterol absorption in the hamster

1 reference

12 December 2020

The submicrosomal localization of uridine 5'-diphosphate-glucose dolichyl-phosphate glucosyltransferase and bile acid glucosyltransferase in the human liver

1 reference

12 December 2020

Marked reduction in bile acid synthesis in cholesterol 7alpha-hydroxylase-deficient mice does not lead to diminished tissue cholesterol turnover or to hypercholesterolemia

1 reference

12 December 2020

Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase

1 reference

12 December 2020

Sperm chromosome aneuploidy analysis in a man with globozoospermia

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI29224

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17080196%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference