Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.

Journal of human genetics - 1 Jan 2007

Bross Peter, Li Zhijie, Hansen Jakob, Hansen Jens Jacob, Nielsen Marit Nyholm, Corydon Thomas Juhl, Georgopoulos Costa, Ang Debbie, Lundemose Jytte Banner, Niezen-Koning Klary, Eiberg Hans, Yang Huanming, Kølvraa Steen, Bolund Lars, Gregersen Niels

Abstract excerpt

Molecular chaperones assist protein folding, and variations in their encoding genes may be disease-causing in themselves or influence the phenotypic expression of disease-associated or susceptibility-conferring variations in many different genes. We have screened three candidate patient groups for variations in the HSPD1 and HSPE1 genes encoding the mitochondrial Hsp60/Hsp10 chaperone complex: two patients with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chaperonin 10
Share to Chaperonin 60

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Infant

Share to Infant, Newborn

Share to Mitochondrial Proteins

Share to Promoter Regions, Genetic

Share to Sudden Infant Death

Source

Identifiers

PMID: 17072495
DOI: 10.1007/s10038-006-0080-7

Genes

HSPD1
ACADS
HSPE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.PMID 17072495Read ↗

Functional single-nucleotide variant of HSPD1 in sudden infant death syndrome.Semantic proximity Read ↗

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.Semantic proximity Read ↗

hsp70 genes in the human genome: Conservation and differentiation patterns predict a wide array of overlapping and specialized functions.Semantic proximity Read ↗

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.Semantic proximity Read ↗

An evaluation of single nucleotide polymorphisms in the human heat shock protein 90 kDa α and β isoforms.Semantic proximity Read ↗

Genetic disorders involving molecular-chaperone genes: a perspective.Semantic proximity Read ↗

Association of HSP70 and its co-chaperones with Alzheimer's disease.Semantic proximity Read ↗

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

Variation in hsp gene expression and Hsp polymorphism: do they contribute to differential disease susceptibility and stress tolerance?Semantic proximity Read ↗

Regulatory variants drive Hsp90’s effect on adaptationSemantic proximity Read ↗

Molecular variation of human HSP90alpha and HSP90beta genes in Caucasians.Semantic proximity Read ↗

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.