Associated Papers
Structural insights into GrpEL1-mediated nucleotide and substrate release of human mitochondrial Hsp70.
Morizono MA et al.
Nature Communications, 2024
Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex.
Jain S et al.
Genes, 2024
Structural insights into GrpEL1-mediated nucleotide and substrate release of human mitochondrial Hsp70.
Morizono MA et al.
Biorxiv : the Preprint Server for Biology, 2024
Prenatal to preimplantation genetic diagnosis of a novel compound heterozygous mutation in HSPA9 associated with Even-Plus syndrome.
Chang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
Liu M et al.
Molecular Genetics & Genomic Medicine, 2024
Identifying patients with EVEN-plus syndrome using exome sequencing and clinical feature analysis: A case report.
Li HW et al.
Molecular Genetics & Genomic Medicine, 2022
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Pacio-Miguez M et al.
American Journal of Medical Genetics. Part A, 2022
Autophagy inhibition rescues structural and functional defects caused by the loss of mitochondrial chaperone Hsc70-5 in Drosophila.
Zhu JY et al.
Autophagy, 2021
Mitochondrial HSP70 Chaperone System-The Influence of Post-Translational Modifications and Involvement in Human Diseases.
Havalová H et al.
International Journal of Molecular Sciences, 2021
Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.
Zhang W et al.
Biophysics Reports, 2021
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
Younger G et al.
American Journal of Medical Genetics. Part A, 2020
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.
Dong YN et al.
Human Molecular Genetics, 2019
Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin.
Moseng MA et al.
The Journal of Physical Chemistry. B, 2019
Lack of association of mortalin (HSPA9) and other mitochondria-related genes with risk of Parkinson's and Alzheimer's diseases.
Chung SJ et al.
Neurobiology of Aging, 2017
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Royer-Bertrand B et al.
Scientific Reports, 2015
Functional significance of point mutations in stress chaperone mortalin and their relevance to Parkinson disease.
Wadhwa R et al.
The Journal of Biological Chemistry, 2015
Crystal structure of the nucleotide-binding domain of mortalin, the mitochondrial Hsp70 chaperone.
Amick J et al.
Protein Science : a Publication of the Protein Society, 2014
Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1.
Burbulla LF et al.
Cell Death & Disease, 2014
Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.
Burbulla LF et al.
Human Molecular Genetics, 2010
Iron-Sulfur Protein Assembly in Human Cells.
Saha PP et al.
Reviews of Physiology, Biochemistry and Pharmacology, 0