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Page 1
Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.
Janz A, Walz K, Cirnu A, Surjanto J, Urlaub D, Leskien M, Kohlhaas M, Nickel A, Brand T, Nose N, Wörsdörfer P, Wagner N, Higuchi T, Maack C, Dudek J, Lorenz K, Klopocki E, Ergün S, Duff HJ, Gerull B. Janz A, et al. Mol Metab. 2024 Jan;79:101859. doi: 10.1016/j.molmet.2023.101859. Epub 2023 Dec 23. Mol Metab. 2024. PMID: 38142971 Free PMC article.
BACKGROUND: Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from truncating mutations in DNAJC19, which encodes an inner mitochondrial membrane protein. Clinical features include an early onset, often life-threatening, cardiomyopathy as …
BACKGROUND: Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from truncating mutations in DNAJC19
Mitochondrial Protein Homeostasis and Cardiomyopathy.
Wachoski-Dark E, Zhao T, Khan A, Shutt TE, Greenway SC. Wachoski-Dark E, et al. Int J Mol Sci. 2022 Mar 20;23(6):3353. doi: 10.3390/ijms23063353. Int J Mol Sci. 2022. PMID: 35328774 Free PMC article. Review.
Genes discussed include DnaJ heat shock protein family member C19 (DNAJC19), mitochondrial import inner membrane translocase subunit TIM16 (MAGMAS), translocase of the inner mitochondrial membrane 50 (TIMM50), mitochondrial intermediate peptidase (MIPEP), X-prolyl-aminopep …
Genes discussed include DnaJ heat shock protein family member C19 (DNAJC19), mitochondrial import inner membrane translocase subunit …
Genetic Basis of Severe Childhood-Onset Cardiomyopathies.
Vasilescu C, Ojala TH, Brilhante V, Ojanen S, Hinterding HM, Palin E, Alastalo TP, Koskenvuo J, Hiippala A, Jokinen E, Jahnukainen T, Lohi J, Pihkala J, Tyni TA, Carroll CJ, Suomalainen A. Vasilescu C, et al. J Am Coll Cardiol. 2018 Nov 6;72(19):2324-2338. doi: 10.1016/j.jacc.2018.08.2171. J Am Coll Cardiol. 2018. PMID: 30384889 Free article.
The disease genes converge on metabolic causes (PRKAG2, MRPL44, AARS2, HADHB, DNAJC19, PPA2, TAZ, BAG3), MAPK pathways (HRAS, PTPN11, RAF1, TAB2), development (NEK8 and TBX20), calcium signaling (JPH2, CALM1, CACNA1C), and the sarcomeric contraction cycle (TNNC1, TNNI3, AC …
The disease genes converge on metabolic causes (PRKAG2, MRPL44, AARS2, HADHB, DNAJC19, PPA2, TAZ, BAG3), MAPK pathways (HRAS, PTPN11, …
Interrogation of cancer gene dependencies reveals paralog interactions of autosome and sex chromosome-encoded genes.
Köferle A, Schlattl A, Hörmann A, Thatikonda V, Popa A, Spreitzer F, Ravichandran MC, Supper V, Oberndorfer S, Puchner T, Wieshofer C, Corcokovic M, Reiser C, Wöhrle S, Popow J, Pearson M, Martinez J, Weitzer S, Mair B, Neumüller RA. Köferle A, et al. Cell Rep. 2022 Apr 12;39(2):110636. doi: 10.1016/j.celrep.2022.110636. Cell Rep. 2022. PMID: 35417719 Free article.
Our analysis reveals >2,000 candidate dependencies, several of which we validate experimentally, including CSTF2-CSTF2T, DNAJC15-DNAJC19, FAM50A-FAM50B, and RPP25-RPP25L. We provide evidence that RPP25L can physically and functionally compensate for the absence of RPP25 …
Our analysis reveals >2,000 candidate dependencies, several of which we validate experimentally, including CSTF2-CSTF2T, DNAJC15-DNAJC
Generation of a homozygous DNAJC19 knockout human embryonic stem cell line by CRISPR/Cas9 system.
Chen G, Bai R, Huang P, Liu X, Ni J, Chen L. Chen G, et al. Stem Cell Res. 2024 Jun;77:103427. doi: 10.1016/j.scr.2024.103427. Epub 2024 Apr 26. Stem Cell Res. 2024. PMID: 38696852 Free article.
Mutations in the DNAJC19 gene cause Dilated Cardiomyopathy with Ataxia Syndrome (DCMA). The precise mechanisms underlying the DCMA phenotype caused by DNAJC19 mutations remain poorly understood, and effective treatment modalities were lacking unitl recently. By usin …
Mutations in the DNAJC19 gene cause Dilated Cardiomyopathy with Ataxia Syndrome (DCMA). The precise mechanisms underlying the DCMA ph …
Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.
Al Teneiji A, Siriwardena K, George K, Mital S, Mercimek-Mahmutoglu S. Al Teneiji A, et al. Pediatr Neurol. 2016 Sep;62:58-61. doi: 10.1016/j.pediatrneurol.2016.03.020. Epub 2016 Jun 4. Pediatr Neurol. 2016. PMID: 27426421 Review.
BACKGROUND: The dilated cardiomyopathy with ataxia syndrome is a rare autosomal recessive multisystem disorder caused by mutations in DNAJC19. We present a new patient with a novel pathogenic variant in DNAJC19 with novel neuroimaging finding of progressive cerebell …
BACKGROUND: The dilated cardiomyopathy with ataxia syndrome is a rare autosomal recessive multisystem disorder caused by mutations in DNA
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.
Machiraju P, Degtiarev V, Patel D, Hazari H, Lowry RB, Bedard T, Sinasac D, Brundler MA, Greenway SC, Khan A. Machiraju P, et al. J Inherit Metab Dis. 2022 Mar;45(2):366-376. doi: 10.1002/jimd.12441. Epub 2021 Oct 7. J Inherit Metab Dis. 2022. PMID: 34580891
The dilated cardiomyopathy with ataxia syndrome (DCMA) is an autosomal recessive mitochondrial disease caused by mutations in the DnaJ heat shock protein family (Hsp40) member C19 (DNAJC19) gene. DCMA or 3-methylglutaconic aciduria type V is globally rare, but the largest …
The dilated cardiomyopathy with ataxia syndrome (DCMA) is an autosomal recessive mitochondrial disease caused by mutations in the DnaJ heat …
The mitochondrial protein translocation motor: structural conservation between the human and yeast Tim14/Pam18-Tim16/Pam16 co-chaperones.
Elsner S, Simian D, Iosefson O, Marom M, Azem A. Elsner S, et al. Int J Mol Sci. 2009 May 6;10(5):2041-2053. doi: 10.3390/ijms10052041. Int J Mol Sci. 2009. PMID: 19564938 Free PMC article.
Of particular interest for us is the human Tim14/Pam18-Tim16/Pam16 complex. We chose a structural approach in order to examine the evolutionary conservation between yeast Tim14/Pam18-Tim16/Pam16 proteins and their human homologues. ...Our results show …
Of particular interest for us is the human Tim14/Pam18-Tim16/Pam16 complex. We chose a structural approach in order to examine …
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.
Al Tuwaijri A, Alyafee Y, Alharbi M, Ballow M, Aldrees M, Alam Q, Sleiman RA, Umair M, Alfadhel M. Al Tuwaijri A, et al. Mol Genet Genomic Med. 2022 Aug;10(8):e1969. doi: 10.1002/mgg3.1969. Epub 2022 May 25. Mol Genet Genomic Med. 2022. PMID: 35611801 Free PMC article.
Quantitative gene expression analysis revealed that DNAJC19 mRNA expression in this patient was substantially reduced compared to the control. CONCLUSIONS: We present a novel variant in the DNAJC19 gene that causes rare autosomal recessive mitochondrial 3-methylglut …
Quantitative gene expression analysis revealed that DNAJC19 mRNA expression in this patient was substantially reduced compared to the …
Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Janz A, Chen R, Regensburger M, Ueda Y, Rost S, Klopocki E, Günther K, Edenhofer F, Duff HJ, Ergün S, Gerull B. Janz A, et al. Stem Cell Res. 2020 Jul;46:101856. doi: 10.1016/j.scr.2020.101856. Epub 2020 Jun 2. Stem Cell Res. 2020. PMID: 32521499 Free article.
Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from mutations in DNAJC19. Two patient-derived dermal fibroblast cell lines of siblings with the same homozygous splice acceptor site mutation in DNAJC19 (NM_145261.4):c.130-1G>C …
Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from mutations in DNAJC19. Two patient-derived d …
31 results