(Q36011587)

11 August 2017

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title

Genetic disorders involving molecular-chaperone genes: a perspective (English)

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11 August 2017

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Everly Conway de Macario

series ordinal

3

object named as

Everly Conway de Macario

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11 August 2017

Alberto J L Macario

1

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11 August 2017

Tomas M Grippo

series ordinal

2

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11 August 2017

language of work or name

English

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publication date

1 January 2005

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11 August 2017

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11 August 2017

volume

7

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11 August 2017

issue

1

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11 August 2017

page(s)

3-12

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https://scigraph.springernature.com/pub.10.1097/01.gim.0000151351.11876.c3

11 August 2017

exact match

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cites work

Aggresomes, inclusion bodies and protein aggregation

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Protein folding and misfolding

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Protein aggregation and neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Neurodegeneration caused by proteins with an aberrant carboxyl-terminus

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Roles of molecular chaperones in protein misfolding diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Principles of protein folding in the cellular environment

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Getting newly synthesized proteins into shape.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Molecular chaperones in the cytosol: from nascent chain to folded protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Mechanisms of protein import into mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Evidence for an unfolding/threading mechanism for protein disaggregation by Saccharomyces cerevisiae Hsp104.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Protein binding and disruption by Clp/Hsp100 chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

A chaperone network for the resolubilization of protein aggregates: direct interaction of ClpB and DnaK.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

From the cradle to the grave: molecular chaperones that may choose between folding and degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

The ubiquitin-proteasome proteolytic pathway: destruction for the sake of construction

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

21 January 2018

What is a co-chaperone?

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Unfolding retinal dystrophies: a role for molecular chaperones?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Chaperone overload is a possible contributor to 'civilization diseases'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Unfolding the role of chaperones and chaperonins in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Chaperones and aging: role in neurodegeneration and in other civilizational diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Aging and molecular chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Sick chaperones and ageing: a perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Stress and molecular chaperones in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Heat shock response and ageing: mechanisms and applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Progressive decrease in chaperone protein levels in a mouse model of Huntington's disease and induction of stress proteins as a therapeutic approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Aggregate formation inhibits proteasomal degradation of polyglutamine proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

A single amino acid substitution in a proteasome subunit triggers aggregation of ubiquitinated proteins in stressed neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Identification of chaperonin CCT gamma subunit as a determinant of retinotectal development by whole-genome subtraction cloning from zebrafish no tectal neuron mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Exploring the molecular basis of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Establishing a connection between cilia and Bardet-Biedl Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

A missense mutation in Tbce causes progressive motor neuronopathy in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Alpha-crystallin can function as a molecular chaperone

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Cloning, expression, and chaperone-like activity of human alphaA-crystallin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

alpha-Crystallin chaperone-like activity and membrane binding in age-related cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Alpha-crystallin-type heat shock proteins: socializing minichaperones in the context of a multichaperone network.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

The expanding small heat-shock protein family, and structure predictions of the conserved "alpha-crystallin domain".

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Altered aggregation properties of mutant gamma-crystallins cause inherited cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

The gamma-crystallins and human cataracts: a puzzle made clearer

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Interactions and chaperone function of alphaA-crystallin with T5P gammaC-crystallin mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Structural and functional analysis of a new desmin variant causing desmin-related myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Recent advances in early-onset severe retinal degeneration: more than just basic research

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Molecular genetics of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Role of AIP and its homologue the blindness-associated protein AIPL1 in regulating client protein nuclear translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Archaeal peptidyl prolyl cis-trans isomerases (PPIases) update 2004.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

A novel mutation in SACS gene in a family from southern Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Identification of a SACS gene missense mutation in ARSACS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Chaperone-like activity of synucleins

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Alpha-synuclein and neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Interaction of the molecular chaperone alphaB-crystallin with alpha-synuclein: effects on amyloid fibril formation and chaperone activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000151351.11876.C3

10.1097/01.GIM.0000151351.11876.C3

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

11 August 2017

1028810338

0 references

1 reference