(Q34458607)

English

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

2 August 2017

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder (English)

1 reference

Europe PubMed Central

2 August 2017

congenital disorder

0 references

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

3-methylglutaconic aciduria

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Thomas Meitinger

12

1 reference

Europe PubMed Central

2 August 2017

Nicholas Katsanis

34

1 reference

Europe PubMed Central

2 August 2017

Christelle Golzio

object named as

Christelle Golzio

16

0 references

Johannes N Spelbrink

object named as

Johannes N Spelbrink

25

0 references

Richard J Rodenburg

object named as

Richard J Rodenburg

10

0 references

Clara van Karnebeek

18

object named as

Clara van Karnebeek

1 reference

Europe PubMed Central

2 August 2017

Szymon Ziętkiewicz

object named as

Szymon Ziętkiewicz

2

0 references

Holger Prokisch

object named as

Holger Prokisch

33

0 references

object named as

Ewa Pronicka

29

0 references

21

object named as

Katrin Õunap

1 reference

Europe PubMed Central

2 August 2017

Christine Klein

30

object named as

Christine Klein

1 reference

Europe PubMed Central

2 August 2017

0 references

Frédéric M Vaz

object named as

Frédéric M Vaz

26

0 references

Joy Yaplito-Lee

23

object named as

Joy Yaplito-Lee

1 reference

Europe PubMed Central

2 August 2017

5

object named as

Tobias B Haack

1 reference

Europe PubMed Central

2 August 2017

11

object named as

Tim M Strom

1 reference

Europe PubMed Central

2 August 2017

Felix Distelmaier

15

object named as

Felix Distelmaier

1 reference

Europe PubMed Central

2 August 2017

Saskia B Wortmann

1

object named as

Saskia B Wortmann

1 reference

Europe PubMed Central

2 August 2017

Radek Szklarczyk

4

object named as

Radek Szklarczyk

1 reference

Europe PubMed Central

2 August 2017

Hans van Bokhoven

24

object named as

Hans van Bokhoven

1 reference

Europe PubMed Central

2 August 2017

Arjan P M de Brouwer

32

object named as

Arjan P M de Brouwer

1 reference

Europe PubMed Central

2 August 2017

35

object named as

Ron A Wevers

1 reference

Europe PubMed Central

2 August 2017

author name string

Maria Kousi

3

1 reference

Europe PubMed Central

2 August 2017

Søren W Gersting

6

1 reference

Europe PubMed Central

2 August 2017

Ania C Muntau

7

1 reference

Europe PubMed Central

2 August 2017

Aleksandar Rakovic

8

1 reference

Europe PubMed Central

2 August 2017

G Herma Renkema

9

1 reference

Europe PubMed Central

2 August 2017

M Estela Rubio-Gozalbo

13

1 reference

Europe PubMed Central

2 August 2017

Elzbieta Chrusciel

14

1 reference

Europe PubMed Central

2 August 2017

Joop H Jansen

17

1 reference

Europe PubMed Central

2 August 2017

Yolanda Lillquist

19

1 reference

Europe PubMed Central

2 August 2017

Thomas Lücke

20

1 reference

Europe PubMed Central

2 August 2017

Riina Zordania

22

1 reference

Europe PubMed Central

2 August 2017

Mia Pras-Raves

27

1 reference

Europe PubMed Central

2 August 2017

Michel A A P Willemsen

31

1 reference

Europe PubMed Central

2 August 2017

language of work or name

0 references

publication date

15 January 2015

1 reference

Europe PubMed Central

2 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

2 August 2017

96

1 reference

Europe PubMed Central

2 August 2017

2

1 reference

Europe PubMed Central

2 August 2017

245-257

1 reference

Europe PubMed Central

2 August 2017

SMART: recent updates, new developments and status in 2015.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Functional regionalization of the teleost cerebellum analyzed in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

In vivo modeling of the morbid human genome using Danio rerio

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Congenital neutropenia: diagnosis, molecular bases and patient management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

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=4320260

6 July 2018

The enigmatic role of tafazzin in cardiolipin metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

The AAA+ superfamily of functionally diverse proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Ankyrin repeat: a unique motif mediating protein-protein interactions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

A camel passes through the eye of a needle: protein unfolding activity of Clp ATPases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Thermotolerance requires refolding of aggregated proteins by substrate translocation through the central pore of ClpB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

The ankyrin repeat as molecular architecture for protein recognition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

The ankyrin repeat: a diversity of interactions on a common structural framework

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Computational method to predict mitochondrially imported proteins and their targeting sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

6 July 2018

Unraveling the mechanism of protein disaggregation through a ClpB-DnaK interaction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

27 October 2018

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

27 October 2018

Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320260

27 October 2018

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coupled assay of Na+,K+-ATPase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and function of Hsp78, the mitochondrial ClpB homolog

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2014.12.013

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34458607&oldid=2110641681"