(Q27022895)

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Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites

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Europe PubMed Central

Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites (English)

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Sergei L. Kosakovsky Pond

3

object named as

Sergei L. Kosakovsky Pond

1 reference

Joel O Wertheim

4

object named as

Joel O. Wertheim

1 reference

author name string

Rainer Benndorf

1

1 reference

Jody L. Martin

2

1 reference

publication date

6 March 2014

1 reference

Mutation Research - Reviews

1 reference

A generalized model of gene dosage and dominant negative effects in macromolecular complexes

1 reference

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21 March 2017

The small heat shock protein, HSPB6, in muscle function and disease

1 reference

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21 March 2017

Guidelines for the nomenclature of the human heat shock proteins

1 reference

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21 March 2017

The advantages and disadvantages of being polyploid

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21 March 2017

Interaction of human HSP22 (HSPB8) with other small heat shock proteins

1 reference

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21 March 2017

The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10

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21 March 2017

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

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21 March 2017

Not so different after all: a comparison of methods for detecting amino acid sites under selection

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21 March 2017

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

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21 March 2017

AlphaB-crystallin in lens development and muscle integrity: a gene knockout approach

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21 March 2017

Natural selection on genes that underlie human disease susceptibility

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21 March 2017

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7 April 2017

The molecular basis of genetic dominance

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7 April 2017

Datamonkey: rapid detection of selective pressure on individual sites of codon alignments

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7 April 2017

Aggresomes, inclusion bodies and protein aggregation

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7 April 2017

Fast and sensitive multiple sequence alignments on a microcomputer

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7 April 2017

Analysis of the dominant effects mediated by wild type or R120G mutant of αB-crystallin (HspB5) towards Hsp27 (HspB1)

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28 September 2017

Heat shock response activation exacerbates inclusion body formation in a cellular model of Huntington disease

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28 September 2017

Peptide aptamers: tools to negatively or positively modulate HSPB1(27) function

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28 September 2017

Detecting individual sites subject to episodic diversifying selection

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28 September 2017

Structural aspects and chaperone activity of human HspB3: role of the "C-terminal extension".

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28 September 2017

Sequence, structure, and dynamic determinants of Hsp27 (HspB1) equilibrium dissociation are encoded by the N-terminal domain

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28 September 2017

Small heat shock proteins and α-crystallins: dynamic proteins with flexible functions

1 reference

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28 September 2017

InterfERing with endoplasmic reticulum stress

1 reference

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28 September 2017

The role of intrinsically disordered regions in the structure and functioning of small heat shock proteins.

1 reference

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28 September 2017

Molecular mechanisms of α-crystallinopathy and its therapeutic strategy

1 reference

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28 September 2017

Large potentials of small heat shock proteins

1 reference

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28 September 2017

Protein localization in disease and therapy.

1 reference

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28 September 2017

Heterooligomeric complexes of human small heat shock proteins

1 reference

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28 September 2017

Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins.

1 reference

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28 September 2017

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

1 reference

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28 September 2017

The role played by natural selection on Mendelian traits in humans

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28 September 2017

Small heat shock proteins and protein-misfolding diseases

1 reference

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28 September 2017

Abnormal interaction of motor neuropathy-associated mutant HspB8 (Hsp22) forms with the RNA helicase Ddx20 (gemin3).

1 reference

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28 September 2017

Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach

1 reference

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28 September 2017

Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

Dominance and gene dosage balance in health and disease: why levels matter!

1 reference

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28 September 2017

The genetic code--more than just a table

1 reference

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28 September 2017

Protective effect of geranylgeranylacetone via enhancement of HSPB8 induction in desmin-related cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

Human mutation in the anti-apoptotic heat shock protein 20 abrogates its cardioprotective effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

Structural and functional diversities between members of the human HSPB, HSPH, HSPA, and DNAJ chaperone families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

Site-directed mutations in the C-terminal extension of human alphaB-crystallin affect chaperone function and block amyloid fibril formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

Insights into function and regulation of small heat shock protein 25 (HSPB1) in a mouse model with targeted gene disruption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

The cellular "networking" of mammalian Hsp27 and its functions in the control of protein folding, redox state and apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

Abnormal small heat shock protein interactions involving neuropathy-associated HSP22 (HSPB8) mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

Evidence for an essential function of the N terminus of a small heat shock protein in vivo, independent of in vitro chaperone activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

Mitochondrial dysfunction and apoptosis underlie the pathogenic process in alpha-B-crystallin desmin-related cardiomyopathy

1 reference

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28 September 2017

Unresolved boundaries of evolutionary theory and the question of how inheritance systems evolve: 75 years of debate on the evolution of dominance

1 reference

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28 September 2017

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease

1 reference

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28 September 2017

Polymorphisms affecting gene regulation and mRNA processing: broad implications for pharmacogenetics

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28 September 2017

Desmin-related cardiomyopathy in transgenic mice: a cardiac amyloidosis

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28 September 2017

Defective trafficking of nephrin missense mutants rescued by a chemical chaperone

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28 September 2017

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 September 2017

Protein aggregation and aggregate toxicity: new insights into protein folding, misfolding diseases and biological evolution

1 reference

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28 September 2017

The sperm outer dense fiber protein is the 10th member of the superfamily of mammalian small stress proteins

1 reference

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28 September 2017

Why proteins without an alpha-crystallin domain should not be included in the human small heat shock protein family HSPB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

31 May 2018

Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

31 May 2018

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

31 May 2018

Mutation of COOH-terminal lysines in overexpressed alpha B-crystallin abrogates ischemic protection in cardiomyocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

31 May 2018

Genealogy of the alpha-crystallin--small heat-shock protein superfamily

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31 May 2018

Effect of tauroursodeoxycholic and ursodeoxycholic acid on ethanol-induced cell injuries in the human Hep G2 cell line.

1 reference

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31 May 2018

A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)

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31 May 2018

Effects of site-directed mutations on the chaperone-like activity of alphaB-crystallin.

1 reference

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31 May 2018

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.

1 reference

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28 November 2018

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.

1 reference

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28 November 2018

Roles of the N- and C-terminal sequences in Hsp27 self-association and chaperone activity

1 reference

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28 November 2018

Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.

1 reference

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28 November 2018

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

1 reference

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28 November 2018

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 November 2018

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157968

28 November 2018

Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene

1 reference

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28 November 2018

The flux-summation theorem and the 'evolution of dominance'.

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28 November 2018

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

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28 November 2018

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

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28 November 2018

Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1.

1 reference

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28 November 2018

The folding and evolution of multidomain proteins

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28 November 2018

Green tea (-)-epigallocatechin-gallate modulates early events in huntingtin misfolding and reduces toxicity in Huntington's disease models

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28 November 2018

Alpha B-crystallin mutation in dilated cardiomyopathy

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28 November 2018

[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].

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28 November 2018

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

1 reference

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28 November 2018

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

1 reference

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28 November 2018

The IARC TP53 database: new online mutation analysis and recommendations to users

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28 November 2018

Five novel genetic variants in the promoter and coding region of the alpha B-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L.

1 reference

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28 November 2018

Protein sequence alignments: a strategy for the hierarchical analysis of residue conservation.

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28 November 2018

αB-Crystallin mutation in dilated cardiomyopathies: Low prevalence in a consecutive series of 200 unrelated probands

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Independent evolution of the core domain and its flanking sequences in small heat shock proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Charcot-Marie-Tooth disease: an update

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myopathy-associated alphaB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heat shock proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel CRYAB mutation resulting in multisystemic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interruption of CryAB-amyloid oligomer formation by HSP22

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of distal hereditary motor neuropathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of mutations in the beta5-beta7 loop on the structure and properties of human small heat shock protein HSP22 (HspB8, H11)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alphaB-cristallin gene]

1 reference

https://pubmed.ncbi.nlm.nih.gov/24607769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.MRREV.2014.02.004

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

PubMed publication ID

1 reference

ResearchGate publication ID

0 references

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