Leukodystrophy, Hypomyelinating, 4
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.
|
30083362 |
2018 |
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
The patients were found to have a homozygous missense mutation in HSPD1, encoding the mitochondrial heat-shock protein 60 (Hsp60), and the disorder was defined as the autosomal recessive mitochondrial Hsp60 chaperonopathy (MitCHAP-60) disease.
|
27405012 |
2016 |
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
This study constitutes a first finding concerning the relationship between disease-associated HSPD1 mutation and mitochondrial dynamics, which may be similar to the relationship between another disease-associated HSPD1 mutation (MitCHAP-60 disease) and aberrant mitochondrial dynamics.
|
25957474 |
2015 |
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
Biomarker
|
disease |
BEFREE |
The MitCHAP-60 disease is due to entropic destabilization of the human mitochondrial Hsp60 oligomer.
|
19706612 |
2009 |
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
The disorder, which we have termed MitCHAP-60 disease, can be distinguished from spastic paraplegia 13 (SPG13), another Hsp60-associated autosomal-dominant neurodegenerative disorder, by its autosomal-recessive inheritance pattern, as well as by its early-onset, profound cerebral involvement and lethality.
|
18571143 |
2008 |
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
Biomarker
|
disease |
CTD_human |
The disorder, which we have termed MitCHAP-60 disease, can be distinguished from spastic paraplegia 13 (SPG13), another Hsp60-associated autosomal-dominant neurodegenerative disorder, by its autosomal-recessive inheritance pattern, as well as by its early-onset, profound cerebral involvement and lethality.
|
18571143 |
2008 |
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
The disorder, which we have termed MitCHAP-60 disease, can be distinguished from spastic paraplegia 13 (SPG13), another Hsp60-associated autosomal-dominant neurodegenerative disorder, by its autosomal-recessive inheritance pattern, as well as by its early-onset, profound cerebral involvement and lethality.
|
18571143 |
2008 |
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
|
11898127 |
2002 |
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Leukodystrophy, Hypomyelinating, 4
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|