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Quoted phrase not found in phrase index: "Mitochondrial DNA depletion syndrome 11"
Page 1
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT. DiMauro S, et al. Arch Neurol. 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. Arch Neurol. 1993. PMID: 8215979 Review.
Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA) and are capable of synthesizing a small but vital set of proteins, all of which are components of respiratory chain complexes. ...The vast …
Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA …
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Shimura M, Kuranobu N, Ogawa-Tominaga M, Akiyama N, Sugiyama Y, Ebihara T, Fushimi T, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Umetsu S, Inui A, Fujisawa T, Tanikawa K, Ito R, Fukuda A, Murakami J, Kaji S, Kasahara M, Shiraki K, Ohtake A, Okazaki Y, Murayama K. Shimura M, et al. Orphanet J Rare Dis. 2020 Jul 24;15(1):169. doi: 10.1186/s13023-020-01441-5. Orphanet J Rare Dis. 2020. PMID: 32703289 Free PMC article.
BACKGROUND: Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. ...RESULTS: We retrospective …
BACKGROUND: Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mit …
Clinical and molecular spectrum associated with Polymerase-γ related disorders.
Jha R, Patel H, Dubey R, Goswami JN, Bhagwat C, Saini L, K Manokaran R, John BM, Kovilapu UB, Mohimen A, Saxena A, Sondhi V. Jha R, et al. J Child Neurol. 2022 Mar;37(4):246-255. doi: 10.1177/08830738211067065. Epub 2022 Jan 5. J Child Neurol. 2022. PMID: 34986040
Phenotypically, patients were categorized into Alpers-Huttenlocher syndrome; myocerebrohepatopathy syndrome; myoclonic epilepsy, myopathy, and sensory ataxia; ataxia-neuropathy spectrum; Leigh disease; and autosomal dominant / recessive progressive external ophthalm …
Phenotypically, patients were categorized into Alpers-Huttenlocher syndrome; myocerebrohepatopathy syndrome; myoclonic epileps …
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, El-Hattab AW, Wong LJ. Wang J, et al. Mol Genet Metab. 2018 Jun;124(2):124-130. doi: 10.1016/j.ymgme.2018.04.012. Epub 2018 Apr 28. Mol Genet Metab. 2018. PMID: 29735374
Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular diseases. ...Biallelic pathogenic variants in the Thymidine Kinase 2 (TK2) gene cause a myopathic form of …
Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with man …
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM. Lax NZ, et al. Brain. 2012 Jan;135(Pt 1):62-71. doi: 10.1093/brain/awr326. Epub 2011 Dec 20. Brain. 2012. PMID: 22189570 Free PMC article.
Defects in the mitochondrial DNA replication enzyme, polymerase gamma, are an important cause of mitochondrial disease with 25% of all adult diagnoses attributed to mutations in the POLG gene. ...We propose that the respiratory chain defects, secondary to …
Defects in the mitochondrial DNA replication enzyme, polymerase gamma, are an important cause of mitochondrial disease …
Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.
Chinault AC, Shaw CA, Brundage EK, Tang LY, Wong LJ. Chinault AC, et al. Genet Med. 2009 Jul;11(7):518-26. doi: 10.1097/GIM.0b013e3181abd83c. Genet Med. 2009. PMID: 19546809 Free article.
The current procedures for diagnosis of mitochondrial DNA deletion and depletion syndromes based on Southern analysis and quantitative polymerase chain reaction are particularly inefficient for determining important parameters of deletion endpoints and …
The current procedures for diagnosis of mitochondrial DNA deletion and depletion syndromes based on Southern ana …
Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.
Wang J, Zhan H, Li FY, Pursley AN, Schmitt ES, Wong LJ. Wang J, et al. Mol Genet Metab. 2012 Jun;106(2):221-30. doi: 10.1016/j.ymgme.2012.03.005. Epub 2012 Mar 21. Mol Genet Metab. 2012. PMID: 22494545
A total of 1280 DNA samples from patients suspected of having mitochondrial or metabolic disorders were evaluated using this targeted aCGH. We detected 40 (3%) pathogenic large deletions in unrelated individuals, including 6 in genes responsible for mitochondrial …
A total of 1280 DNA samples from patients suspected of having mitochondrial or metabolic disorders were evaluated using this t …
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
Sciacco M, Gasparo-Rippa P, Vu TH, Tanji K, Shanske S, Mendell JR, Schon EA, DiMauro S, Bonilla E. Sciacco M, et al. Muscle Nerve. 1998 Nov;21(11):1374-81. doi: 10.1002/(sici)1097-4598(199811)21:11<1374::aid-mus3>3.0.co;2-6. Muscle Nerve. 1998. PMID: 9771659
We quantitated the absolute amounts of total mitochondrial DNA (mtDNA) in isolated normal COX-positive muscle fibers and in COX-negative RRF. There was severe mtDNA depletion in all fibers from the two most severe cases. In the third case mtDNA depletion …
We quantitated the absolute amounts of total mitochondrial DNA (mtDNA) in isolated normal COX-positive muscle fibers and in CO …
Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice.
Papeta N, Zheng Z, Schon EA, Brosel S, Altintas MM, Nasr SH, Reiser J, D'Agati VD, Gharavi AG. Papeta N, et al. J Clin Invest. 2010 Nov;120(11):4055-64. doi: 10.1172/JCI43721. Epub 2010 Oct 18. J Clin Invest. 2010. PMID: 20978358 Free PMC article.
Adriamycin (ADR) is a commonly used chemotherapeutic agent that also produces significant tissue damage. Mutations to mitochondrial DNA (mtDNA) and reductions in mtDNA copy number have been identified as contributors to ADR-induced injury. ...While Prkdc protein was …
Adriamycin (ADR) is a commonly used chemotherapeutic agent that also produces significant tissue damage. Mutations to mitochondrial …
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ. Douglas GV, et al. J Hum Genet. 2011 Dec;56(12):834-9. doi: 10.1038/jhg.2011.112. Epub 2011 Oct 20. J Hum Genet. 2011. PMID: 22011815 Free PMC article.
Mitochondrial DNA (mtDNA) depletion syndrome encompasses a heterogeneous group of disorders characterized by a reduction in the mtDNA copy number. We identified two patients with clinical presentations consistent with mtDNA depletion syndrome …
Mitochondrial DNA (mtDNA) depletion syndrome encompasses a heterogeneous group of disorders characterized by a r …
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