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Quoted phrase not found in phrase index: "Mitochondrial DNA depletion syndrome 11"
Page 1
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Neurology. 2023 Jul 18;101(3):e238-e252. doi: 10.1212/WNL.0000000000207402. Epub 2023 Jun 2. Neurology. 2023. PMID: 37268435 Free PMC article. Clinical Trial.
Primary efficacy endpoints included change from baseline to week 24 on the distance walked on the 6-minute walk test (6MWT) and total fatigue on the Primary Mitochondrial Myopathy Symptom Assessment (PMMSA). Secondary endpoints included most bothersome symptom score …
Primary efficacy endpoints included change from baseline to week 24 on the distance walked on the 6-minute walk test (6MWT) and total fatigu …
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ. Chanprasert S, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):153-61. doi: 10.1016/j.ymgme.2013.07.009. Epub 2013 Jul 17. Mol Genet Metab. 2013. PMID: 23932787
Mitochondrial DNA (mtDNA) depletion syndromes (MDSs) are a clinically and molecularly heterogeneous group of mitochondrial cytopathies characterized by severe mtDNA copy number reduction in affected tissues. ...Quantitative analysis of mtDNA con …
Mitochondrial DNA (mtDNA) depletion syndromes (MDSs) are a clinically and molecularly heterogeneous group of …
Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion.
Sabouny R, Wong R, Lee-Glover L, Greenway SC, Sinasac DS; Care4Rare Canada; Khan A, Shutt TE. Sabouny R, et al. Biochim Biophys Acta Mol Basis Dis. 2019 Nov 1;1865(11):165536. doi: 10.1016/j.bbadis.2019.165536. Epub 2019 Aug 20. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31442532 Free article.
Mutations in FBXL4 (F-Box and Leucine rich repeat protein 4), a nuclear-encoded mitochondrial protein with an unknown function, cause mitochondrial DNA depletion syndrome. ...Finally, as the exact mechanism through which FBXL4 mutations lead to …
Mutations in FBXL4 (F-Box and Leucine rich repeat protein 4), a nuclear-encoded mitochondrial protein with an unknown function, cause …
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 …
Prevalence of lipoatrophy and mitochondrial DNA content of blood and subcutaneous fat in HIV-1-infected patients randomly allocated to zidovudine- or stavudine-based therapy.
van der Valk M, Casula M, Weverlingz GJ, van Kuijk K, van Eck-Smit B, Hulsebosch HJ, Nieuwkerk P, van Eeden A, Brinkman K, Lange J, de Ronde A, Reiss P. van der Valk M, et al. Antivir Ther. 2004 Jun;9(3):385-93. Antivir Ther. 2004. PMID: 15259901 Clinical Trial.
INTRODUCTION: Mitochondrial toxicity resulting from mitochondrial DNA (mtDNA) depletion is suggested to be involved in the pathogenesis of lipodystrophy. ...The lack of difference in mtDNA in adipose tissue from patients with as opposed to without lipo …
INTRODUCTION: Mitochondrial toxicity resulting from mitochondrial DNA (mtDNA) depletion is suggested to be invol …
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. ...Our observations indicate that mtDNA single-fiber PCR quantitation is a highly sensitive and specific method for d …
We quantitated the absolute amounts of total mitochondrial DNA (mtDNA) in isolated normal COX-positive muscle fibers and in CO …
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.
Finally, for one sample, we were able to identify an intragenic deletion in a nuclear gene that was responsible for the observed mitochondrial DNA depletion. CONCLUSION: We conclude that this custom array is capable of reliably detecting mitochondri …
Finally, for one sample, we were able to identify an intragenic deletion in a nuclear gene that was responsible for the observed m …
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM. Schaller A, et al. BMC Neurol. 2011 Jan 14;11:4. doi: 10.1186/1471-2377-11-4. BMC Neurol. 2011. PMID: 21235791 Free PMC article.
BACKGROUND: DNA polymerase gamma (POLG) is the only known mitochondrial DNA (mtDNA) polymerase. ...Mutations in the POLG gene lead to reduction of functional mtDNA (mtDNA depletion and/or deletions) and are therefore predicted to result in defec …
BACKGROUND: DNA polymerase gamma (POLG) is the only known mitochondrial DNA (mtDNA) polymerase. ...Mutations in the POL …
Acetyl-carnitine deficiency in AIDS patients with neurotoxicity on treatment with antiretroviral nucleoside analogues.
Famularo G, Moretti S, Marcellini S, Trinchieri V, Tzantzoglou S, Santini G, Longo A, De Simone C. Famularo G, et al. AIDS. 1997 Feb;11(2):185-90. doi: 10.1097/00002030-199702000-00008. AIDS. 1997. PMID: 9030365 Clinical Trial.
The depletion of acetyl-carnitine, which regulates the metabolism and function of peripheral nerves could contribute to the neurotoxicity of these compounds. ...The critical role of acetyl-carnitine for the metabolism and function of the peripheral nerves supports the view …
The depletion of acetyl-carnitine, which regulates the metabolism and function of peripheral nerves could contribute to the neurotoxi …
Death of bystander cells by a novel pathway involving early mitochondrial damage in human immunodeficiency virus-related lymphadenopathy.
Carbonari M, Pesce AM, Cibati M, Modica A, Dell'Anna L, D'Offizi G, Angelici A, Uccini S, Modesti A, Fiorilli M. Carbonari M, et al. Blood. 1997 Jul 1;90(1):209-16. Blood. 1997. PMID: 9207455 Free article.
Electron microscopic and flow cytometric analyses revealed that most dead cells from HIV+ lymph nodes lacked internucleosomal DNA fragmentation but displayed combined features of apoptosis and necrosis, eg, chromatin condensation and mitochondrial swelling. Cells wi …
Electron microscopic and flow cytometric analyses revealed that most dead cells from HIV+ lymph nodes lacked internucleosomal DNA fra …
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