المؤلفون: North American Mitochondrial Disease Consortium (NAMDC), National Institute of Neurological Disorders and Stroke (NINDS)

المصدر: Harnessing Resilience in Adults With Primary Mitochondrial Disease: A Pilot Study Investigating the Feasibility of the Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Interventions

المصدر: A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral TTI-0102 for Treatment of Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)

المؤلفون: National Institute of Neurological Disorders and Stroke (NINDS)

المساهمون: Michio Hirano, MD, Professor of Neurology

المصدر: The Rare Disease Clinical Research Network Natural History Study of MNGIE
Marti R, Lopez LC, Hirano M. Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol. 2012;837:121-33. doi: 10.1007/978-1-61779-504-6_8.

المصدر: A Phase 2a Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Individuals With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)

المصدر: A Phase III, Randomised, Double-blind, Placebo-controlled, Parallel-group, Pivotal Trial to Assess the Efficacy and Safety of Sonlicromanol in Adult Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Variant

المؤلفون: Autism Discovery and Treatment Foundation

المساهمون: Richard Frye, Principal Investigator

المصدر: Patterns of Disease, Outcomes and Treatment Response in Children With Neurodevelopmental Disorders

المساهمون: Kenneth Myers, MD, Principal Investigator

المصدر: A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders
Osellame LD, Blacker TS, Duchen MR. Cellular and molecular mechanisms of mitochondrial function. Best Pract Res Clin Endocrinol Metab. 2012 Dec;26(6):711-23. doi: 10.1016/j.beem.2012.05.003. Epub 2012 Jun 23.
Miller FJ, Rosenfeldt FL, Zhang C, Linnane AW, Nagley P. Precise determination of mitochondrial DNA copy number in human skeletal and cardiac muscle by a PCR-based assay: lack of change of copy number with age. Nucleic Acids Res. 2003 Jun 1;31(11):e61. doi: 10.1093/nar/gng060.
DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003 Jun 26;348(26):2656-68. doi: 10.1056/NEJMra022567. No abstract available.
Huang CC, Hsu CH. [Mitochondrial disease and mitochondrial DNA depletion syndromes]. Acta Neurol Taiwan. 2009 Dec;18(4):287-95. Chinese.
Rusecka J, Kaliszewska M, Bartnik E, Tonska K. Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA. J Appl Genet. 2018 Feb;59(1):43-57. doi: 10.1007/s13353-017-0424-3. Epub 2018 Jan 17.
Viscomi C, Zeviani M. MtDNA-maintenance defects: syndromes and genes. J Inherit Metab Dis. 2017 Jul;40(4):587-599. doi: 10.1007/s10545-017-0027-5. Epub 2017 Mar 21.
Blazquez-Bermejo C, Carreno-Gago L, Molina-Granada D, Aguirre J, Ramon J, Torres-Torronteras J, Cabrera-Perez R, Martin MA, Dominguez-Gonzalez C, de la Cruz X, Lombes A, Garcia-Arumi E, Marti R, Camara Y. Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts. FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8.
El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6.
Nogueira C, Almeida LS, Nesti C, Pezzini I, Videira A, Vilarinho L, Santorelli FM. Syndromes associated with mitochondrial DNA depletion. Ital J Pediatr. 2014 Apr 3;40:34. doi: 10.1186/1824-7288-40-34.
Basel D. Mitochondrial DNA Depletion Syndromes. Clin Perinatol. 2020 Mar;47(1):123-141. doi: 10.1016/j.clp.2019.10.008. Epub 2019 Oct 31.
Rahman S, Poulton J. Diagnosis of mitochondrial DNA depletion syndromes. Arch Dis Child. 2009 Jan;94(1):3-5. doi: 10.1136/adc.2008.147983. No abstract available.
Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I, Zeviani M. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis. 2009 Apr;32(2):143-58. doi: 10.1007/s10545-008-1038-z. Epub 2008 Dec 27.
Suomalainen A, Isohanni P. Mitochondrial DNA depletion syndromes--many genes, common mechanisms. Neuromuscul Disord. 2010 Jul;20(7):429-37. doi: 10.1016/j.nmd.2010.03.017. Epub 2010 May 4.
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Hikmat O, Eichele T, Tzoulis C, Bindoff LA. Understanding the Epilepsy in POLG Related Disease. Int J Mol Sci. 2017 Aug 24;18(9):1845. doi: 10.3390/ijms18091845.
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Milone M, Benarroch EE, Wong LJ. POLG-related disorders: defects of the nuclear and mitochondrial genome interaction. Neurology. 2011 Nov 15;77(20):1847-52. doi: 10.1212/WNL.0b013e318238863a. No abstract available.
Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol. 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0.
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Engelsen BA, Tzoulis C, Karlsen B, Lillebo A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain. 2008 Mar;131(Pt 3):818-28. doi: 10.1093/brain/awn007. Epub 2008 Jan 30.
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Hikmat O, Tzoulis C, Chong WK, Chentouf L, Klingenberg C, Fratter C, Carr LJ, Prabhakar P, Kumaraguru N, Gissen P, Cross JH, Jacques TS, Taanman JW, Bindoff LA, Rahman S. Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet Med. 2019 Apr;21(4):1027. doi: 10.1038/s41436-018-0098-1.
Lim A, Thomas RH. The mitochondrial epilepsies. Eur J Paediatr Neurol. 2020 Jan;24:47-52. doi: 10.1016/j.ejpn.2019.12.021. Epub 2020 Jan 7.
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Gandhi VV, Samuels DC. A review comparing deoxyribonucleoside triphosphate (dNTP) concentrations in the mitochondrial and cytoplasmic compartments of normal and transformed cells. Nucleosides Nucleotides Nucleic Acids. 2011 May;30(5):317-39. doi: 10.1080/15257770.2011.586955.
Gonzalez-Vioque E, Torres-Torronteras J, Andreu AL, Marti R. Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). PLoS Genet. 2011 Mar;7(3):e1002035. doi: 10.1371/journal.pgen.1002035. Epub 2011 Mar 31.
Absalon MJ, Harding CO, Fain DR, Li L, Mack KJ. Leigh syndrome in an infant resulting from mitochondrial DNA depletion. Pediatr Neurol. 2001 Jan;24(1):60-3. doi: 10.1016/s0887-8994(00)00226-5.
Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rotig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genet Med. 2020 Jan;22(1):199-209. doi: 10.1038/s41436-019-0613-z. Epub 2019 Aug 29.
Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009 Aug;66(8):1028-32. doi: 10.1001/archneurol.2009.139.
Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007 Jun;39(6):776-80. doi: 10.1038/ng2040. Epub 2007 May 7.
Kollberg G, Darin N, Benan K, Moslemi AR, Lindal S, Tulinius M, Oldfors A, Holme E. A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. Neuromuscul Disord. 2009 Feb;19(2):147-50. doi: 10.1016/j.nmd.2008.11.014. Epub 2009 Jan 12.
El-Hattab AW, Wang J, Dai H, Almannai M, Scaglia F, Craigen WJ, Wong LJC. MPV17-Related Mitochondrial DNA Maintenance Defect. 2012 May 17 [updated 2018 May 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK92947/
El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13.
El-Hattab AW, Scaglia F. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May 26 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK6803/
El-Hattab AW, Scaglia F. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK425223/
Almannai, M., et al., FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome, in GeneReviews((R)), M.P. Adam, et al., Editors. 1993: Seattle (WA).
Saada A. Deoxyribonucleotides and disorders of mitochondrial DNA integrity. DNA Cell Biol. 2004 Dec;23(12):797-806. doi: 10.1089/dna.2004.23.797.
Wang L. Mitochondrial purine and pyrimidine metabolism and beyond. Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):578-594. doi: 10.1080/15257770.2015.1125001.
Akanuma J. [Mitochondrial DNA depletion syndrome]. Nihon Rinsho. 2002 Apr;60 Suppl 4:398-401. No abstract available. Japanese.
Zipursky A. The genetics of childhood disease and development. Pediatr Res. 2003 Jan;53(1):3. doi: 10.1203/00006450-200301000-00003. No abstract available.
Filosto M, Scarpelli M, Tonin P, Lucchini G, Pavan F, Santus F, Parini R, Donati MA, Cotelli MS, Vielmi V, Todeschini A, Canonico F, Tomelleri G, Padovani A, Rovelli A. Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. J Neurol. 2012 Dec;259(12):2699-706. doi: 10.1007/s00415-012-6572-9. Epub 2012 Jun 19.
Hirano M, Marti R, Casali C, Tadesse S, Uldrick T, Fine B, Escolar DM, Valentino ML, Nishino I, Hesdorffer C, Schwartz J, Hawks RG, Martone DL, Cairo MS, DiMauro S, Stanzani M, Garvin JH Jr, Savage DG. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology. 2006 Oct 24;67(8):1458-60. doi: 10.1212/01.wnl.0000240853.97716.24. Epub 2006 Sep 13.
Yavuz H, Ozel A, Christensen M, Christensen E, Schwartz M, Elmaci M, Vissing J. Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis. Arch Neurol. 2007 Mar;64(3):435-8. doi: 10.1001/archneur.64.3.435.
Hasselmann O, Blau N, Ramaekers VT, Quadros EV, Sequeira JM, Weissert M. Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. Mol Genet Metab. 2010 Jan;99(1):58-61. doi: 10.1016/j.ymgme.2009.08.005.
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Saito K, Kimura N, Oda N, Shimomura H, Kumada T, Miyajima T, Murayama K, Tanaka M, Fujii T. Pyruvate therapy for mitochondrial DNA depletion syndrome. Biochim Biophys Acta. 2012 May;1820(5):632-6. doi: 10.1016/j.bbagen.2011.08.006. Epub 2011 Aug 11.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824.
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Lara MC, Weiss B, Illa I, Madoz P, Massuet L, Andreu AL, Valentino ML, Anikster Y, Hirano M, Marti R. Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology. 2006 Oct 24;67(8):1461-3. doi: 10.1212/01.wnl.0000239824.95411.52. Epub 2006 Sep 13.
Camara Y, Gonzalez-Vioque E, Scarpelli M, Torres-Torronteras J, Marti R. Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA. Drug Discov Today. 2013 Oct;18(19-20):950-7. doi: 10.1016/j.drudis.2013.06.009. Epub 2013 Jun 28.
Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. Eur J Hum Genet. 2014 Feb;22(2):184-91. doi: 10.1038/ejhg.2013.112. Epub 2013 May 29.
Dalla Rosa I, Camara Y, Durigon R, Moss CF, Vidoni S, Akman G, Hunt L, Johnson MA, Grocott S, Wang L, Thorburn DR, Hirano M, Poulton J, Taylor RW, Elgar G, Marti R, Voshol P, Holt IJ, Spinazzola A. MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria. PLoS Genet. 2016 Jan 13;12(1):e1005779. doi: 10.1371/journal.pgen.1005779. eCollection 2016 Jan.
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Dominguez-Gonzalez C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodriguez FJ, Donati MA, Kleinsteuber K, Marti I, Martin-Hernandez E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Alvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Marti R, Paradas C, Hirano M. Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17.
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المؤلفون: Julius Clinical, ProPharma Group, Certara

المصدر: A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202.

المساهمون: Mary Kay Koenig, Professor

المصدر: The International Registry for Leigh Syndrome

المؤلفون: Rius, Rocio, Bennett, Neal, Bhattacharya, Kaustuv, Riley, Lisa, Yüksel, Zafer, Formosa, Luke, Compton, Alison, Dale, Russell, Cowley, Mark, Gayevskiy, Velimir, Al Tala, Saeed, Almehery, Abdulrahman, Ryan, Michael, Thorburn, David, Christodoulou, John, Nakamura, Ken

المصدر: Human Mutation. 43(12)

مصطلحات موضوعية: COX11, OXPHOS, coenzyme Q, mitochondrial disorders, Humans, Mitochondrial Encephalomyopathies, Mitochondrial Diseases, Mitochondria, Adenosine Triphosphate, Copper Transport Proteins, Mitochondrial Proteins, Electron Transport Chain Complex Proteins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6hv00787

المؤلفون: New York University, Universität Tübingen, Heinrich-Heine University, Duesseldorf

المساهمون: Joseph Gleeson, professor, neuroscience

المصدر: A Patient Registry and Natural History Study of Patients With Biallelic HPDL Mutations
Ghosh SG, Lee S, Fabunan R, Chai G, Zaki MS, Abdel-Salam G, Sultan T, Ben-Omran T, Alvi JR, McEvoy-Venneri J, Stanley V, Patel A, Ross D, Ding J, Jain M, Pan D, Lubbert P, Kammerer B, Wiedemann N, Verhoeven-Duif NM, Jans JJ, Murphy D, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Ibrahim K, Waters ER, Maroofian R, Gleeson JG. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genet Med. 2021 Mar;23(3):524-533. doi: 10.1038/s41436-020-01010-y. Epub 2020 Nov 14.
Banh RS, Kim ES, Spillier Q, Biancur DE, Yamamoto K, Sohn ASW, Shi G, Jones DR, Kimmelman AC, Pacold ME. The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway. Nature. 2021 Sep;597(7876):420-425. doi: 10.1038/s41586-021-03865-w. Epub 2021 Sep 1.

المؤلفون: Pandita, Neha, Ganguly, Jacky, Kumar, Hrishikesh

المصدر: Annals of Movement Disorders; May-Aug2024, Vol. 7 Issue 2, p78-87, 10p

مصطلحات موضوعية: OPTIC nerve diseases, LEIGH disease, UBIQUINONES, ATAXIA, MITOCHONDRIA, RETINITIS pigmentosa, SPINOCEREBELLAR ataxia, DNA, CEREBELLAR ataxia, ENERGY metabolism, METABOLISM, EPILEPSY, KEARNS-Sayre syndrome, DNA replication, MITOCHONDRIAL pathology, GENETIC mutation, NEURORADIOLOGY, PHENOTYPES, GENETICS, MITOCHONDRIAL encephalomyopathies, SYMPTOMS

المؤلفون: Guerrero-Molina, María Paz, Bernabeu-Sanz, Ángela, Ramos-González, Ana, Morales-Conejo, Montserrat, Delmiro, Aitor, Domínguez-González, Cristina, Arenas, Joaquín, Martín, Miguel A., González de la Aleja, Jesús

المصدر: Neuroradiology; Mar2024, Vol. 66 Issue 3, p389-398, 10p

مصطلحات موضوعية: BRAIN metabolism, DRUG efficacy, GLUTAMIC acid, PREFRONTAL cortex, STROKE, SCIENTIFIC observation, CLINICAL trials, PROTON magnetic resonance spectroscopy, LACTIC acidosis, CASE-control method, MITOCHONDRIAL encephalomyopathies, CREATINE, LACTATES, RESEARCH funding, GLUTAMINE, DATA analysis software, METABOLITES, LONGITUDINAL method, EVALUATION

المؤلفون: Carolina Ferreira Gonçalves, Patrícia Lipari Pinto, Ana Raquel Claro, Joana Coelho, Sofia Quintas, Márcia Rodrigues, Paula Costa, Ana Margalha Miranda, Mónica Rebelo, Célia Nogueira, Patrícia Janeiro, Ana Gaspar

المصدر: Journal of Pediatric and Neonatal Individualized Medicine, Vol 13, Iss 1, Pp e130111-e130111 (2024)

مصطلحات موضوعية: fbxl4 protein, lactic acidosis, dna, mitochondrial, mitochondrial encephalomyopathies, congenital disorder, manifestations, neurologic, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://jpnim.com/index.php/jpnim/article/view/1598; https://doaj.org/toc/2281-0692

URL الوصول: https://doaj.org/article/8a4f4f77c2a54e5da9dc5fde1feb02a7

المؤلفون: Julius Clinical

المصدر: A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation.

المؤلفون: Kareem, Shabana, Mathai, Reemy Sara

المصدر: Archives of Medicine & Health Sciences; May-Aug2024, Vol. 12 Issue 2, p269-271, 3p

مصطلحات موضوعية: UBIQUINONES, HYDROLASES, CARNITINE, MAGNETIC resonance imaging, BRAIN diseases, DYSTONIA, LACTATES, TRANSFERASES, GENETIC mutation, MUSCULAR atrophy, EARLY diagnosis, SPEECH disorders, DELAYED diagnosis, MITOCHONDRIAL encephalomyopathies, MITOCHONDRIAL DNA, EYE movements, SYMPTOMS

مصطلحات جغرافية: INDIA

المؤلفون: Dhir, Shibani, Tarasenko, Maya, Napoli, Eleonora, Giulivi, Cecilia

المصدر: Frontiers in psychiatry. 10(APR)

مصطلحات موضوعية: Krebs cycle, autism spectrum disorders, brain, depressive disorders, encephalomyopathies, pentose phosphate pathway, thiamine transporter, Clinical Sciences, Public Health and Health Services, Psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/71n066f0

المؤلفون: Finsterer, Josef

المصدر: Journal of the Belgian Society of Radiology; 2023, Vol. 107 Issue 1, p1-N.PAG, 4p

مصطلحات موضوعية: MITOCHONDRIAL encephalomyopathies, MELAS syndrome, STROKE, LACTIC acidosis, MAGNETIC resonance imaging

المؤلفون: Alcalá-González, Luis Gerardo, Marti, Ramon, Malagelada, Carolina, Accarino, Anna, Sánchez-Tejerina, Daniel, Llaurado, Arnau, Azpiroz, Fernando

المساهمون: Institut Català de la Salut, Alcalá-González LG, Accarino A, Azpiroz F, Malagelada C Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei d’Aparell Digestiu, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (Ciberehd), Barcelona, Spain. Martí R Grup de Recerca de Patologia Neuromuscular i Mitocondrial, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Sánchez-Tejerina D, Llauradó A Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. European Reference Network for Neuromuscular and Rare Diseases EURONMD, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Anomalies cromosòmiques, Aparell digestiu - Malalties - Aspectes genètics, Mitocondris - Malalties - Aspectes genètics, Músculs - Malalties - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Nervous System Diseases::Mitochondrial Encephalomyopathies, DISEASES::Digestive System Diseases::Gastrointestinal Diseases, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades del sistema nervioso::encefalomiopatías mitocondriales, ENFERMEDADES::enfermedades del sistema digestivo::enfermedades gastrointestinales

وصف الملف: application/pdf

Relation: Neurogastroenterology & Motility;35(10); https://doi.org/10.1111/nmo.14643; info:eu-repo/grantAgreement/ES/PE2017-2020/PID2021-122295OB-I00; Alcalá-González LG, Accarino A, Ramon R, Sánchez-Tejerina D, Llauradó A, Azpiroz F, et al. Distinctive gastrointestinal motor dysfunction in patients with MNGIE. Neurogastroenterol Motil. 2023 Jun 23;35(10):e14643.; https://hdl.handle.net/11351/10393; 001027272700001

الاتاحة: https://hdl.handle.net/11351/10393
https://doi.org/10.1111/nmo.14643

المؤلفون: Hyunjoo Lee, Je Hee Shin, Ji-Hoon Na, Young-Mock Lee

المصدر: Annals of Child Neurology, Vol 29, Iss 3, Pp 140-144 (2021)

مصطلحات موضوعية: magnetic resonance spectroscopy, mitochondrial encephalomyopathies, melas syndrome, mitochondrial diseases, acidosis, lactic, Internal medicine, RC31-1245, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annchildneurol.org/upload/pdf/acn-2021-00381.pdf; https://doaj.org/toc/2635-909X; https://doaj.org/toc/2635-9103

URL الوصول: https://doaj.org/article/7e1f646b225b4d438443ede677457c3e