(Q37372934)

20 August 2017

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects (English)

1 reference

20 August 2017

12

Benjamin F Cravatt

1 reference

20 August 2017

4

Heather C Mefford

1 reference

20 August 2017

Dong-Hui Chen

1

1 reference

20 August 2017

Alipi Naydenov

2

1 reference

20 August 2017

Jacqueline L Blankman

3

1 reference

20 August 2017

Marie Davis

5

1 reference

20 August 2017

Youngmee Sul

6

1 reference

20 August 2017

A Samuel Barloon

7

1 reference

20 August 2017

Emily Bonkowski

8

1 reference

20 August 2017

John Wolff

9

1 reference

20 August 2017

Mark Matsushita

10

1 reference

20 August 2017

Corrine Smith

11

1 reference

20 August 2017

Ken Mackie

13

1 reference

20 August 2017

Wendy H Raskind

14

1 reference

20 August 2017

Nephi Stella

15

1 reference

20 August 2017

Thomas D Bird

16

1 reference

20 August 2017

language of work or name

1 reference

2 October 2013

1 reference

20 August 2017

1 reference

20 August 2017

34

1 reference

20 August 2017

12

1 reference

20 August 2017

1672-1678

1 reference

describes a project that uses

20 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3855015/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Structure and evolutionary origins of the CMG complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Microglial-neuronal interactions during neurodegenerative diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Activation of the replicative DNA helicase: breaking up is hard to do.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Endocannabinoid hydrolysis generates brain prostaglandins that promote neuroinflammation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

The serine hydrolase ABHD6 controls the accumulation and efficacy of 2-AG at cannabinoid receptors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Activity-based proteomics of enzyme superfamilies: serine hydrolases as a case study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Endocannabinoid signaling in microglial cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Selectivity of inhibitors of endocannabinoid biosynthesis evaluated by activity-based protein profiling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

A competition between stimulators and antagonists of Upf complex recruitment governs human nonsense-mediated mRNA decay

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Comprehensive expression profiling of tumor cell lines identifies molecular signatures of melanoma progression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

A perfect message: RNA surveillance and nonsense-mediated decay

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

PSF1, a DNA replication factor expressed widely in stem and progenitor cells, drives tumorigenic and metastatic properties

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

A novel Refsum-like disorder that maps to chromosome 20.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

Direct visualization of serine hydrolase activities in complex proteomes using fluorescent active site-directed probes

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855015

NMD: RNA biology meets human genetic medicine

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22437

21 January 2018

Identifiers

DOI

10.1002/HUMU.22437

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

24027063

1 reference