Comert C et al. A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy. Cold Spring Harb Mol Case Stud 2020; 6(3). PMID: 32532876.
Bross P et al. Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex. Front Mol Biosci 2016; 3(49):49. PMID: 27630992.
Magnoni R et al. Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice. Neurobiol Dis 2013; 54:12-23. PMID: 23466696.
Bross P et al. Molecular chaperone disorders: defective Hsp60 in neurodegeneration. Curr Topic Medicinal Chem. 2012; 12(22):2491-2503. PMID: 23339303.
Magen D et al. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet. 2008; 83(1):30-42. PMID: 18571143.
Hansen JJ et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet. 2002;70(5):1328-1332. PMID: 11898127 .
HSPD1