{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["6"],"submitter":["Miyamoto Y"],"pubmed_abstract":["The data is related to the research article entitled \"Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics\" [1]. In addition to hypomyelinating leukodystrophy (HLD) 4 (OMIM no. 612233), it is known that spastic paraplegia (SPG) 13 (OMIM no. 605280) is caused by HSPD1's amino acid mutation. Two amino acid mutations Val-98-to-Ile (V98I) and Gln-461-to-Glu (Q461E) are associated with SPG13 [2]. In order to investigate the effects of HSPD1's V98I or Q461E mutant on mitochondrial morphological changes, we transfected each of the respective mutant-encoding genes into Cos-7 cells. Either of V98I or Q461E mutant exhibited increased number of mitochondria and short length mitochondrial morphologies. Using MitoTracker dye-incorporating assay, decreased mitochondrial membrane potential was also observed in both cases. The data described here supports that SPG13-associated HSPD1 mutant participates in causing aberrant mitochondrial morphological changes with decreased activities."],"journal":["Data in brief"],"pagination":["482-8"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4716458"],"repository":["biostudies-literature"],"pubmed_title":["Data supporting mitochondrial morphological changes by SPG13-associated HSPD1 mutants."],"pmcid":["PMC4716458"],"pubmed_authors":["Eguchi T","Tanoue A","Yamauchi J","Megumi FT","Hasegawa N","Tamura H","Miyamoto Y"],"additional_accession":[]},"is_claimable":false,"name":"Data supporting mitochondrial morphological changes by SPG13-associated HSPD1 mutants.","description":"The data is related to the research article entitled \"Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics\" [1]. In addition to hypomyelinating leukodystrophy (HLD) 4 (OMIM no. 612233), it is known that spastic paraplegia (SPG) 13 (OMIM no. 605280) is caused by HSPD1's amino acid mutation. Two amino acid mutations Val-98-to-Ile (V98I) and Gln-461-to-Glu (Q461E) are associated with SPG13 [2]. In order to investigate the effects of HSPD1's V98I or Q461E mutant on mitochondrial morphological changes, we transfected each of the respective mutant-encoding genes into Cos-7 cells. Either of V98I or Q461E mutant exhibited increased number of mitochondria and short length mitochondrial morphologies. Using MitoTracker dye-incorporating assay, decreased mitochondrial membrane potential was also observed in both cases. The data described here supports that SPG13-associated HSPD1 mutant participates in causing aberrant mitochondrial morphological changes with decreased activities.","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Mar","modification":"2020-11-08T09:59:46Z","creation":"2019-03-27T02:07:03Z"},"accession":"S-EPMC4716458","cross_references":{"pubmed":["26900593"],"doi":["10.1016/j.dib.2015.12.038"]}}