Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Mutations and Protein Interaction Landscape Reveal Key Cellular Events Perturbed in Upper Motor Neurons with HSP and PLS.
Gozutok O et al.
Brain Sciences, 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
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
Data supporting mitochondrial morphological changes by SPG13-associated HSPD1 mutants.
Miyamoto Y et al.
Data in Brief, 2016
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
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice.
Magnoni R et al.
Neurobiology of Disease, 2013
Cellular pathways of hereditary spastic paraplegia.
Blackstone C
Annual Review of Neuroscience, 2012
A cell model to study different degrees of Hsp60 deficiency in HEK293 cells.
Bie AS et al.
Cell Stress & Chaperones, 2011
A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation.
Ikeda Y 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
The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.
Bross P et al.
The Journal of Biological Chemistry, 2008
Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).
Hansen J et al.
Neuroscience, 2008
A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.
Hansen J et al.
Journal of Neurology, 2007
Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.
Bross P et al.
Journal of Human Genetics, 2007
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
Hansen JJ et al.
American Journal of Human Genetics, 2002