Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesis.
Cömert C et al.
Molecular Metabolism, 2024
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Hypomyelinating Leukodystrophy 10 (HLD10)-Associated Mutations of PYCR2 Form Large Size Mitochondria, Inhibiting Oligodendroglial Cell Morphological Differentiation.
Torii T et al.
Neurology International, 2022
Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction.
Enomoto H et al.
Cardiovascular Research, 2021
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.
Cömert C et al.
Cold Spring Harbor Molecular Case Studies, 2020
Complex Destabilization in the Mitochondrial Chaperonin Hsp60 Leads to Disease.
Rodriguez A et al.
Frontiers in Molecular Biosciences, 2020
Missense Mutations of Human Hsp60: A Computational Analysis to Unveil Their Pathological Significance.
Vitale AM et al.
Frontiers in Genetics, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Myelin Pathology: Involvement of Molecular Chaperones and the Promise of Chaperonotherapy.
Scalia F et al.
Brain Sciences, 2019
[Genomic medicine for preconception, prenatal and postnatal diagnostics].
Gerdes AA et al.
Ugeskrift for Laeger, 2019
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.
Yamamoto T et al.
Human Genome Variation, 2018
Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation.
Miyamoto Y et al.
Molecular Genetics and Metabolism Reports, 2017
Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex.
Bross P et al.
Frontiers in Molecular Biosciences, 2016
Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics.
Miyamoto Y et al.
Biochemical and Biophysical Research Communications, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder.
Mkaouar-Rebai E et al.
Journal of Child Neurology, 2010
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K et al.
Journal of the Neurological Sciences, 2009
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Salinas S et al.
The Lancet. Neurology, 2008
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Magen D et al.
American Journal of Human Genetics, 2008