(Q34458607)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

2 August 2017

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

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Europe PubMed Central

PubMed publication ID

2 August 2017

congenital disorder

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intellectual disability

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based on heuristic

inferred from title

3-methylglutaconic aciduria

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based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Thomas Meitinger

12

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Nicholas Katsanis

34

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Christelle Golzio

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Christelle Golzio

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Johannes N Spelbrink

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Johannes N Spelbrink

25

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Richard J Rodenburg

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Richard J Rodenburg

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Clara van Karnebeek

18

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Clara van Karnebeek

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2 August 2017

Szymon Ziętkiewicz

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Szymon Ziętkiewicz

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Holger Prokisch

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Holger Prokisch

33

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Ewa Pronicka

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21

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Katrin Õunap

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Christine Klein

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Christine Klein

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2 August 2017

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Frédéric M Vaz

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Frédéric M Vaz

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Joy Yaplito-Lee

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Joy Yaplito-Lee

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5

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Tobias B Haack

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11

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Tim M Strom

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Felix Distelmaier

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Felix Distelmaier

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Saskia B Wortmann

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Saskia B Wortmann

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Radek Szklarczyk

4

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Radek Szklarczyk

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Hans van Bokhoven

24

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Hans van Bokhoven

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Arjan P M de Brouwer

32

object named as

Arjan P M de Brouwer

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2 August 2017

35

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Ron A Wevers

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2 August 2017

author name string

Maria Kousi

3

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Søren W Gersting

6

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Ania C Muntau

7

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Aleksandar Rakovic

8

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G Herma Renkema

9

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2 August 2017

M Estela Rubio-Gozalbo

13

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2 August 2017

Elzbieta Chrusciel

14

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2 August 2017

Joop H Jansen

17

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Yolanda Lillquist

19

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2 August 2017

Thomas Lücke

20

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2 August 2017

Riina Zordania

22

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2 August 2017

Mia Pras-Raves

27

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2 August 2017

Michel A A P Willemsen

31

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2 August 2017

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publication date

15 January 2015

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2 August 2017

American Journal of Human Genetics

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2 August 2017

96

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2 August 2017

2

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PubMed publication ID

2 August 2017

245-257

1 reference

Europe PubMed Central

PubMed publication ID

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

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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

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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

PubMed publication ID

2 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

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