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Quoted phrase not found in phrase index: "Mitochondrial DNA depletion syndrome 17"
Page 1
The impact of TK2 deficiency syndrome and its treatment by nucleoside therapy on quality of life.
Amtmann D, Gammaitoni AR, Galer BS, Salem R, Jensen MP. Amtmann D, et al. Mitochondrion. 2023 Jan;68:1-9. doi: 10.1016/j.mito.2022.10.003. Epub 2022 Oct 29. Mitochondrion. 2023. PMID: 36374792
TK2d is an ultrarare autosomal recessive mitochondrial DNA depletion syndrome. Nucleoside therapy improves or stabilizes disease across key outcomes including survival, ambulation, and requirement for mechanical ventilation. ...Adult participants with …
TK2d is an ultrarare autosomal recessive mitochondrial DNA depletion syndrome. Nucleoside therapy improves or st …
Pyruvate therapy for mitochondrial DNA depletion syndrome.
Saito K, Kimura N, Oda N, Shimomura H, Kumada T, Miyajima T, Murayama K, Tanaka M, Fujii T. Saito K, et al. Biochim Biophys Acta. 2012 May;1820(5):632-6. doi: 10.1016/j.bbagen.2011.08.006. Epub 2011 Aug 11. Biochim Biophys Acta. 2012. PMID: 21855607
BACKGROUND: Mitochondrial DNA depletion syndromes are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. ...No significant change of the blood lactate le …
BACKGROUND: Mitochondrial DNA depletion syndromes are a group of heterogeneous autosomal recessive disorders ass …
Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children.
Uchida H, Sakamoto S, Shimizu S, Yanagi Y, Fukuda A, Horikawa R, Ito R, Matsunaga A, Murayama K, Kasahara M. Uchida H, et al. Pediatr Transplant. 2021 Dec;25(8):e14091. doi: 10.1111/petr.14091. Epub 2021 Jul 15. Pediatr Transplant. 2021. PMID: 34265160
METHODS: Thirteen patients who underwent LT for MRCD from November 2005 to May 2020 were enrolled in this study. RESULTS: Six of 13 MRCD patients were diagnosed with a mitochondrial inner membrane protein 17-related mitochondrial DNA depletion …
METHODS: Thirteen patients who underwent LT for MRCD from November 2005 to May 2020 were enrolled in this study. RESULTS: Six of 13 MRCD pat …
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
Shafique A, Arif B, Chu ML, Moran E, Hussain T, Zamora FM, Wohler E, Sobreira N, Klein C, Lohmann K, Naz S. Shafique A, et al. J Med Genet. 2023 Apr;60(4):352-358. doi: 10.1136/jmg-2022-108521. Epub 2022 Aug 24. J Med Genet. 2023. PMID: 36002240
CONCLUSIONS: Our results expand the clinical and allelic spectrum of MRM2 variants. Previously, these descriptions were based on observations in a single patient, diagnosed with mitochondrial DNA depletion syndrome 17, in whom movement di …
CONCLUSIONS: Our results expand the clinical and allelic spectrum of MRM2 variants. Previously, these descriptions were based on observat …
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
Chan SS, Longley MJ, Naviaux RK, Copeland WC. Chan SS, et al. DNA Repair (Amst). 2005 Dec 8;4(12):1381-9. doi: 10.1016/j.dnarep.2005.08.010. Epub 2005 Sep 21. DNA Repair (Amst). 2005. PMID: 16181814
Alpers syndrome is an autosomal recessive mitochondrial DNA depletion disorder that affects children and young adults. It is characterized by a progressive, fatal brain and liver disease. This syndrome has been associated with mutations in POLG, …
Alpers syndrome is an autosomal recessive mitochondrial DNA depletion disorder that affects children and young a …
C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.
Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A. Mroczek S, et al. Genes Dev. 2012 Sep 1;26(17):1911-25. doi: 10.1101/gad.193169.112. Epub 2012 Aug 16. Genes Dev. 2012. PMID: 22899009 Free PMC article.
C16orf57 encodes a human protein of unknown function, and mutations in the gene occur in poikiloderma with neutropenia (PN), which is a rare, autosomal recessive disease. Interestingly, mutations in C16orf57 were also observed among patients diagnosed with Rothmund-Thomson …
C16orf57 encodes a human protein of unknown function, and mutations in the gene occur in poikiloderma with neutropenia (PN), which is a rare …
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
Kaji S, Murayama K, Nagata I, Nagasaka H, Takayanagi M, Ohtake A, Iwasa H, Nishiyama M, Okazaki Y, Harashima H, Eitoku T, Yamamoto M, Matsushita H, Kitamoto K, Sakata S, Katayama T, Sugimoto S, Fujimoto Y, Murakami J, Kanzaki S, Shiraki K. Kaji S, et al. Mol Genet Metab. 2009 Aug;97(4):292-6. doi: 10.1016/j.ymgme.2009.04.014. Epub 2009 May 12. Mol Genet Metab. 2009. PMID: 19520594
BACKGROUND/AIMS: To describe the clinical and biological findings of two Japanese siblings with novel MPV17 gene mutations (c.451insC/c.509C > T) manifesting hepatic mitochondrial DNA depletion syndrome. METHODS: We observed these brothers an …
BACKGROUND/AIMS: To describe the clinical and biological findings of two Japanese siblings with novel MPV17 gene mutations (c.451insC/c.509C …