Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). (Q30541813)

17 August 2017

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). (English)

1 reference

17 August 2017

2 references

1 reference

parkinsonian syndrome

1 reference

1 reference

PubMed publication ID

24 June 2017

0 references

Deborah A Nickerson

1 reference

17 August 2017

Evan E Eichler

1 reference

17 August 2017

Emre Karakoc

1 reference

17 August 2017

Olena Korvatska

1 reference

17 August 2017

Nicholas S Strand

1 reference

17 August 2017

Jason D Berndt

1 reference

17 August 2017

Tim Strovas

1 reference

17 August 2017

Dong-Hui Chen

1 reference

17 August 2017

James B Leverenz

1 reference

17 August 2017

Konstantin Kiianitsa

1 reference

17 August 2017

Ignacio F Mata

1 reference

17 August 2017

J Lynne Greenup

1 reference

17 August 2017

Emily Bonkowski

1 reference

17 August 2017

Joseph Chuang

1 reference

17 August 2017

Randall T Moon

1 reference

17 August 2017

Brian C Kraemer

1 reference

17 August 2017

Thomas D Bird

1 reference

17 August 2017

Wendy H Raskind

1 reference

17 August 2017

16 April 2013

1 reference

17 August 2017

Human Molecular Genetics

1 reference

17 August 2017

1 reference

17 August 2017

1 reference

17 August 2017

3259-3268

1 reference

describes a project that uses

17 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723311/fullTextXML

inferred from PubMed Central ID database lookup

cites work

The (pro)renin receptor ((P)RR) can act as a repressor of Wnt signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Detection of structural variants and indels within exome data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Prorenin receptor is essential for podocyte autophagy and survival

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Neuropathology of frontotemporal lobar degeneration-tau (FTLD-tau).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

MSUT2 is a determinant of susceptibility to tau neurotoxicity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

The (pro)renin receptor/ATP6AP2 is essential for vacuolar H+-ATPase assembly in murine cardiomyocytes.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Requirement of prorenin receptor and vacuolar H+-ATPase-mediated acidification for Wnt signaling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

The pathobiology of splicing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

A role of the (pro)renin receptor in neuronal cell differentiation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Assaying beta-catenin/TCF transcription with beta-catenin/TCF transcription-based reporter constructs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

The V-type H+-ATPase in vesicular trafficking: targeting, regulation and function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Dissection of the autophagosome maturation process by a novel reporter protein, tandem fluorescent-tagged LC3

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

TRDB--the Tandem Repeats Database

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

The ups and downs of Wnt signaling in prevalent neurological disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Rotation, structure, and classification of prokaryotic V-ATPase.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Are splicing mutations the most frequent cause of hereditary disease?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Truncated mutants of the putative Wnt receptor LRP6/Arrow can stabilize beta-catenin independently of Frizzled proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Effects of Bafilomycin A1: an inhibitor of vacuolar H (+)-ATPases on endocytosis and apoptosis in RAW cells and RAW cell-derived osteoclasts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

The vacuolar (H+)-ATPases--nature's most versatile proton pumps

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Trinucleotide repeats: mechanisms and pathophysiology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Tandem repeats finder: a program to analyze DNA sequences

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Identification and characterization of a novel 9.2-kDa membrane sector-associated protein of vacuolar proton-ATPase from chromaffin granules

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723311

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT180

A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT180

Trans-complex formation by proteolipid channels in the terminal phase of membrane fusion

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT180

Bafilomycin A1, a specific inhibitor of vacuolar-type H(+)-ATPase, inhibits acidification and protein degradation in lysosomes of cultured cells

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23595882

12 December 2020

inferred from PubMed ID database lookup

Use of p62/SQSTM1 antibodies for neuropathological diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23595882

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDT180

1 reference

release_th2kxrrmprg4limj54r4ygtqyi

17 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/th2kxrrmprg4limj54r4ygtqyi

24 November 2022

mapped directly with Wikidata item

1 reference

17 August 2017

PubMed publication ID

23595882

1 reference