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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 43"
Page 1
Physical Activity and Health in Chronic Kidney Disease.
Wilund KR, Thompson S, Viana JL, Wang AY. Wilund KR, et al. Contrib Nephrol. 2021;199:43-55. doi: 10.1159/000517696. Epub 2021 Aug 3. Contrib Nephrol. 2021. PMID: 34343989 Review.
CKD has profound negative effects on skeletal muscle structure and function that are related to impairments in mitochondrial function, inflammation, oxidative stress, metabolic acidosis, and other uremia-related factors. ...In summary, low physical activity levels i …
CKD has profound negative effects on skeletal muscle structure and function that are related to impairments in mitochondrial function …
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
In a German validation cohort, 9/104 (8.7%) of affected individuals had (GAA)(>335) and a further six had (GAA)(>250), whereas 10/190 (5.3%) control subjects had (GAA)(>250) but none were (GAA)(>335). The combined data suggest (GAA)(>335) are disease causing …
In a German validation cohort, 9/104 (8.7%) of affected individuals had (GAA)(>335) and a further six had (GAA)(>250), whereas 10/190 …
Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Kirola L, Mukherjee A, Mutsuddi M. Kirola L, et al. Mol Neurobiol. 2022 Sep;59(9):5673-5694. doi: 10.1007/s12035-022-02934-z. Epub 2022 Jun 30. Mol Neurobiol. 2022. PMID: 35768750 Review.
However, the newly identified genes show higher disease frequencies in combination with known genes that are implicated in pathogenesis, thus indicating probable digenetic/polygenic inheritance models, along with epistatic interactions. Studies suggest that these genes pla …
However, the newly identified genes show higher disease frequencies in combination with known genes that are implicated in pathogenes …
Liver ACSM3 deficiency mediates metabolic syndrome via a lauric acid-HNF4alpha-p38 MAPK axis.
Xiao X, Li R, Cui B, Lv C, Zhang Y, Zheng J, Hui R, Wang Y. Xiao X, et al. EMBO J. 2024 Feb;43(4):507-532. doi: 10.1038/s44318-023-00020-1. Epub 2024 Jan 8. EMBO J. 2024. PMID: 38191811 Free PMC article.
Metabolic syndrome combines major risk factors for cardiovascular disease, making deeper insight into its pathogenesis important. ...Mechanistically, Acsm3 deficiency, and lauric acid accumulation activated nuclear receptor Hnf4alpha-p38 MAPK signaling. ...
Metabolic syndrome combines major risk factors for cardiovascular disease, making deeper insight into its pathogenesis important. ... …
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM. Rocha MC, et al. Ann Neurol. 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127. Ann Neurol. 2018. PMID: 29283441 Free PMC article.
Mitochondrial respiratory chain deficiency in skeletal muscle biopsies was quantified by immunoreactivity levels for complex I and complex IV proteins. ...RESULTS: We have defined 3 "classes" of single, large-scale deletion with distinct patterns of mitochondrial …
Mitochondrial respiratory chain deficiency in skeletal muscle biopsies was quantified by immunoreactivity levels for complex I …
Cognitive characteristics of mitochondrial diseases in children.
Shurtleff H, Barry D, Chanprasert S, Firman T, Warner M, Saneto RP. Shurtleff H, et al. Epilepsy Behav. 2018 Nov;88:235-243. doi: 10.1016/j.yebeh.2018.09.013. Epub 2018 Oct 11. Epilepsy Behav. 2018. PMID: 30316150
METHODS: We retrospectively identified forty-nine pediatric patients with definitive mitochondrial disease diagnoses and complete intelligence or adaptive functioning testing data. ...Groups without versus with seizures differed most distinctly in Performance IQ (PIQ), wit …
METHODS: We retrospectively identified forty-nine pediatric patients with definitive mitochondrial disease diagnoses and complete int …
Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study.
Primiano G, Brunetti V, Vollono C, Losurdo A, Moroni R, Della Marca G, Servidei S. Primiano G, et al. Neurology. 2021 Jan 12;96(2):e241-e249. doi: 10.1212/WNL.0000000000011005. Epub 2020 Oct 6. Neurology. 2021. PMID: 33024021
OBJECTIVE: To describe the prevalence and characteristics of sleep-disordered breathing (SDB) in a large cohort of patients with genetically confirmed mitochondrial diseases. METHODS: This is a prospective observational study performed at the Neurophysiopatology Uni …
OBJECTIVE: To describe the prevalence and characteristics of sleep-disordered breathing (SDB) in a large cohort of patients with genetically …
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study.
Biousse V, Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Esposti S, La Morgia C, Priglinger C, Karanja R, Blouin L, Taiel M, Sahel JA; LHON Study Group. Biousse V, et al. J Neuroophthalmol. 2021 Sep 1;41(3):309-315. doi: 10.1097/WNO.0000000000001367. J Neuroophthalmol. 2021. PMID: 34415265 Free PMC article. Clinical Trial.
METHODS: In RESCUE and REVERSE, 76 subjects with LHON because of the m.11778 G>A mutation in the mitochondrial gene ND4 received a single unilateral intravitreal injection of lenadogene nolparvovec. ...RESULTS: The population of MT-ND4 subjects enrolled in RESTORE was r …
METHODS: In RESCUE and REVERSE, 76 subjects with LHON because of the m.11778 G>A mutation in the mitochondrial gene ND4 received a …
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry.
Milanowski P, Kosior-Jarecka E, Łukasik U, Wróbel-Dudzińska D, Milanowska J, Khor CC, Aung T, Kocki J, Żarnowski T. Milanowski P, et al. Ophthalmic Genet. 2022 Feb;43(1):42-47. doi: 10.1080/13816810.2021.1970197. Epub 2021 Aug 23. Ophthalmic Genet. 2022. PMID: 34425738
Majority of ADOA patients have mutations in OPA1, gene responsible for mitochondrial fusion final steps. Clinical resemblance between the two diseases make genes involved in mitochondrial fusion good candidates as glaucoma genes. ...Genotype GA of rs2111534 M …
Majority of ADOA patients have mutations in OPA1, gene responsible for mitochondrial fusion final steps. Clinical resemblance between …
Mitochondrial DNA Haplogroups and Neurocognitive Impairment During HIV Infection.
Hulgan T, Samuels DC, Bush W, Ellis RJ, Letendre SL, Heaton RK, Franklin DR, Straub P, Murdock DG, Clifford DB, Collier AC, Gelman BB, Marra CM, McArthur JC, McCutchan JA, Morgello S, Simpson DM, Grant I, Kallianpur AR; CHARTER Group. Hulgan T, et al. Clin Infect Dis. 2015 Nov 1;61(9):1476-84. doi: 10.1093/cid/civ527. Epub 2015 Jun 30. Clin Infect Dis. 2015. PMID: 26129753 Free PMC article.
BACKGROUND: Neurocognitive impairment (NCI) remains an important complication in persons infected with human immunodeficiency virus (HIV). Ancestry-related mitochondrial DNA (mtDNA) haplogroups have been associated with outcomes of HIV infection and combination anti …
BACKGROUND: Neurocognitive impairment (NCI) remains an important complication in persons infected with human immunodeficiency virus (HIV). A …
29 results