(Q30032671)

English

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

scientific article published on 8 February 2017

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scholarly article

1 reference

Europe PubMed Central

24 May 2017

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment (English)

1 reference

Europe PubMed Central

24 May 2017

congenital disorder

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Inositol polyphosphate-5-phosphatase K

1 reference

GOA release 2020-03-11

mild cognitive impairment

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based on heuristic

inferred from title

congenital muscular dystrophy

1 reference

based on heuristic

inferred from title

cognitive dysfunction

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based on heuristic

inferred from title

Francesco Muntoni

35

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38

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object named as

Laura E Swan

36

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Osorio Abath Neto

object named as

Osório Abath Neto

15

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René P. Zahedi

object named as

René P Zahedi

25

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33

object named as

Volker Straub

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Europe PubMed Central

24 May 2017

Hanns Lochmüller

37

object named as

Hanns Lochmüller

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Europe PubMed Central

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Birgit B Ertl-Wagner

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object named as

Birgit Ertl-Wagner

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Europe PubMed Central

24 May 2017

author name string

Manuela Wiessner

1

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Andreas Roos

2

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Christopher J Munn

3

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Ranjith Viswanathan

4

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Tamieka Whyte

5

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Dan Cox

6

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Benedikt Schoser

7

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Caroline Sewry

8

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Helen Roper

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Rahul Phadke

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Chiara Marini Bettolo

11

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Rita Barresi

12

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Richard Charlton

13

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Carsten G Bönnemann

14

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Umbertina C Reed

16

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Edmar Zanoteli

17

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Cristiane Araújo Martins Moreno

18

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Rolf Stucka

20

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Christian De Goede

21

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Tamiris Borges da Silva

22

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Denisa Hathazi

23

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Margherita Dell'Aica

24

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Simone Thiele

26

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Juliane Müller

27

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Helen Kingston

28

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Susanna Müller

29

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Elizabeth Curtis

30

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Maggie C Walter

31

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Tim M Strom

32

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Kate Bushby

34

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language of work or name

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publication date

8 February 2017

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24 May 2017

American Journal of Human Genetics

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24 May 2017

100

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3

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523-536

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24 May 2017

The Phyre2 web portal for protein modeling, prediction and analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Regulators of autophagosome formation in Drosophila muscles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Approach to the diagnosis of congenital myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Increased insulin action in SKIP heterozygous knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Membrane recognition by phospholipid-binding domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Phosphoinositides in cell regulation and membrane dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

SKIP negatively regulates insulin-induced GLUT4 translocation and membrane ruffle formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Identification of a novel domain in two mammalian inositol-polyphosphate 5-phosphatases that mediates membrane ruffle localization. The inositol 5-phosphatase skip localizes to the endoplasmic reticulum and translocates to membrane ruffles ...

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Synthesis and function of 3-phosphorylated inositol lipids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Identification and characterization of a novel inositol polyphosphate 5-phosphatase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Dual role of phosphatidylinositol-3,4,5-trisphosphate in the activation of protein kinase B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Stages of embryonic development of the zebrafish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Inositol phosphates and cell signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

25 May 2017

Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Glucose-regulated protein 78 (GRP78) binds directly to PIP3 phosphatase SKIP and determines its localization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Autophagy as a new therapeutic target in Duchenne muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

The ever-expanding spectrum of congenital muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Role of phosphatidylinositol 3,4,5-trisphosphate (PIP3) 5-phosphatase skeletal muscle- and kidney-enriched inositol polyphosphate phosphatase (SKIP) in myoblast differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Phosphoinositide phosphatases: just as important as the kinases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Arf6 promotes autophagosome formation via effects on phosphatidylinositol 4,5-bisphosphate and phospholipase D.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Regulation of insulin signaling and glucose transporter 4 (GLUT4) exocytosis by phosphatidylinositol 3,4,5-trisphosphate (PIP3) phosphatase, skeletal muscle, and kidney enriched inositol polyphosphate phosphatase (SKIP).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Consensus statement on standard of care for congenital muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Reticulon short hairpin transmembrane domains are used to shape ER tubules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Imaging signal transduction during phagocytosis: phospholipids, surface charge, and electrostatic interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Regulation of Ca2+ entry by inositol lipids in mammalian cells by multiple mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Mutations in phosphoinositide metabolizing enzymes and human disease

1 reference

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3 June 2018

PIP2 is a necessary cofactor for ion channel function: how and why?

1 reference

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3 June 2018

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway

1 reference

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Structural basis for targeting HIV-1 Gag proteins to the plasma membrane for virus assembly.

1 reference

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3 June 2018

Organelle identity and the signposts for membrane traffic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

PI-loting membrane traffic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Phosphoinositide regulation of the actin cytoskeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

PIP(2) and proteins: interactions, organization, and information flow

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

The unfolding tale of the unfolded protein response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

PI(4,5)P(2) regulation of surface membrane traffic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

The role of phosphoinositides in membrane transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Phosphoinositide signaling and the regulation of membrane trafficking in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

The role of phosphoinositide 3-kinase lipid products in cell function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

3 June 2018

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

26 November 2018

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

26 November 2018

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

26 November 2018

Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339217

26 November 2018

Regulation of transferrin recycling kinetics by PtdIns[4,5]P2 availability

1 reference

https://pubmed.ncbi.nlm.nih.gov/28190456

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ER function BiP is a master regulator of ER function

1 reference

https://pubmed.ncbi.nlm.nih.gov/28190456

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families

1 reference

https://pubmed.ncbi.nlm.nih.gov/28190456

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphoinositide lipids as signaling molecules: common themes for signal transduction, cytoskeletal regulation, and membrane trafficking

1 reference

https://pubmed.ncbi.nlm.nih.gov/28190456

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/28190456

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2017.01.024

1 reference

Europe PubMed Central

24 May 2017

0 references

1 reference

Europe PubMed Central

24 May 2017

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