Zobrazeno 1 - 10
of 9 765
pro vyhledávání: '"mitochondrial disease"'
Autor:
Barbara Slapnik, Robert Šket, Klementina Črepinšek, Tine Tesovnik, Barbara Jenko Bizjan, Jernej Kovač
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract This study evaluates long-read and short-read sequencing for mitochondrial DNA (mtDNA) heteroplasmy detection. 592,315 bootstrapped datasets generated from two single-nucleotide mismatched ultra-deep sequenced mtDNA samples were used to asse
Externí odkaz:
https://doaj.org/article/82b7807f8a204fae9861eef7fd4647dd
Autor:
Shintaro Akamatsu, Satomi Mitsuhashi, Kaima Soga, Heisuke Mizukami, Makoto Shiraishi, Martin C Frith, Yoshihisa Yamano
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract Variants in mitochondrial genomes (mtDNA) can cause various neurological and mitochondrial diseases such as mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS). Given the 16 kb length of mtDNA, continuous se
Externí odkaz:
https://doaj.org/article/c3338d81e20740448b40f32ce166bac4
Autor:
Katrin A. Bangel, Albert Z. Lim, Alasdair Blain, Yi Shiau Ng, Amy Winder, Joseph Bulmer, Grainne Gorman, Mark Baker, Robert McFarland
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Focal epilepsy is common in children and adults with mitochondrial disease. Seizures are often refractory to pharmacological treatment and, in this patient group, frequently evolve to refractory focal status epilepticus (also know
Externí odkaz:
https://doaj.org/article/75cefdcaf5114d3abac37f9dc9294184
Publikováno v:
FEBS Open Bio, Vol 14, Iss 10, Pp 1640-1655 (2024)
Mitoribosome biogenesis is a complex process involving RNA elements encoded in the mitochondrial genome and mitoribosomal proteins typically encoded in the nuclear genome. This process is orchestrated by extra‐ribosomal proteins, nucleus‐encoded
Externí odkaz:
https://doaj.org/article/bfdcc70812bc44fabd9d7e766610350e
Publikováno v:
Българска кардиология, Vol 30, Iss 2, Pp 132-137 (2024)
Mitochondrial diseases are rare and heterogeneous conditions frequently affecting the heart. They are caused by mutations in nuclear or mitochondrial DNA with maternal inheritance or de novo occurrence. We present a case of 13-year-old girl with mali
Externí odkaz:
https://doaj.org/article/80f05e6c75c74167879bab6cde6b0fef
Autor:
Brittni R Walker, Lise-Michelle Theard, Milena Pinto, Monica Rodriguez-Silva, Sandra R Bacman, Carlos T Moraes
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 9, Pp 2210-2232 (2024)
Abstract Oxidative Phosphorylation (OXPHOS) defects can cause severe encephalopathies and no effective treatment exists for these disorders. To assess the ability of gene replacement to prevent disease progression, we subjected two different CNS-defi
Externí odkaz:
https://doaj.org/article/7ee838787fdb4b8a8f0b8075974cedd6
Autor:
Yan Lin, Jiayin Wang, Xingyu Zhuang, Ying Zhao, Wei Wang, Dongdong Wang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-12 (2024)
Abstract Background Mitochondrial tRNA (mt-tRNA) variants have been found to cause disease. Post-transcriptional queuosine (Q) modifications of mt-tRNA can promote efficient mitochondrial mRNA translation. Q modifications of mt-tRNAAsn have recently
Externí odkaz:
https://doaj.org/article/a3ec1eb53c6540ed9ce9216c4360fe50
Autor:
Qiyu Dong, Xiaojie Yin, Shuanglong Fan, Sheng Zhong, Wenxin Yang, Keer Chen, Qian Wang, Xue Ma, Refiloe Laurentinah Mahlatsi, Yanling Yang, Jianxin Lyu, Hezhi Fang, Ya Wang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Leigh syndrome (LS) is a common mitochondrial disease caused by mutations in both mitochondrial and nuclear genes. Isoleucyl-tRNA synthetase 2 (IARS2) encodes mitochondrial isoleucine-tRNA synthetase, and variants in IARS2 have be
Externí odkaz:
https://doaj.org/article/e0dc0c332a5b4c46a0d697210083b4e3
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Background This study aimed to explore the demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases. Methods This retrospective cross-sectional study enrolled patients diagnosed w
Externí odkaz:
https://doaj.org/article/8edd1743d2544d70945528cd5b397579
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Pathogenic variants in the ATAD3 gene cluster have been associated with different neurodevelopmental disorders showing clinical symptoms like global developmental delay, muscular hypotonia, cardiomyopathy, congenital cataracts, and cerebellar atrophy
Externí odkaz:
https://doaj.org/article/f6bf6d76fe9140ba911320351e616f45