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The following terms were not found in PubMed: myopathy-cerebellar, ataxia-pigmentary
Page 1
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS) associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal dystrophy (retinitis pigmentosa) and subacute or chronic optic atrophy, which are the …
The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS) associated with mitochondrial impairment. Reti …
Mitochondrial Disorder: Kearns-Sayre Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:161-162. doi: 10.1007/978-3-319-95046-4_30. Adv Exp Med Biol. 2018. PMID: 30578503 Review.
Mitochondrial diseases are multisystem disorders: anemia, myopathy, lactic acidosis, CNS abnormality, endocrine abnormalities, renal disease, sensorineural deafness, and retinal involvement. ...Other variable features are short stature; cerebellar symptoms; w …
Mitochondrial diseases are multisystem disorders: anemia, myopathy, lactic acidosis, CNS abnormality, endocrine abnormalities, …
Mitochondrial optic neuropathies.
Carelli V, La Morgia C, Yu-Wai-Man P. Carelli V, et al. Handb Clin Neurol. 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5. Handb Clin Neurol. 2023. PMID: 36813316 Review.
LHON and DOA are both characterized by selective neurodegeneration of retinal ganglion cells (RGCs) triggered by mitochondrial dysfunction. ...All forms of mitochondrial optic neuropathies, including LHON and DOA, can manifest either as pure optic atrophy or …
LHON and DOA are both characterized by selective neurodegeneration of retinal ganglion cells (RGCs) triggered by mitochondrial …
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A. Karaa A, et al. Pediatr Diabetes. 2015 Feb;16(1):1-9. doi: 10.1111/pedi.12223. Epub 2014 Oct 20. Pediatr Diabetes. 2015. PMID: 25330715 Review.
Primary mitochondrial diseases refer to a group of heterogeneous and complex genetic disorders affecting 1:5000 people. ...Diabetes is a prominent feature of several of these disorders which might be overlooked by the endocrinologist. We here review mitochondrial …
Primary mitochondrial diseases refer to a group of heterogeneous and complex genetic disorders affecting 1:5000 people. ...Dia …
Diabetic vascular diseases: molecular mechanisms and therapeutic strategies.
Li Y, Liu Y, Liu S, Gao M, Wang W, Chen K, Huang L, Liu Y. Li Y, et al. Signal Transduct Target Ther. 2023 Apr 10;8(1):152. doi: 10.1038/s41392-023-01400-z. Signal Transduct Target Ther. 2023. PMID: 37037849 Free PMC article. Review.
Cardiac, cerebral, and peripheral microangiopathy coexist with microangiopathy, while renal and retinal are predominantly microangiopathic. The following associations exist between DPDs: numerous similar molecular mechanisms, and risk-predictive relationships between di …
Cardiac, cerebral, and peripheral microangiopathy coexist with microangiopathy, while renal and retinal are predominantly microangiop …
Cockayne syndrome: Clinical features, model systems and pathways.
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA. Karikkineth AC, et al. Ageing Res Rev. 2017 Jan;33:3-17. doi: 10.1016/j.arr.2016.08.002. Epub 2016 Aug 6. Ageing Res Rev. 2017. PMID: 27507608 Free PMC article. Review.
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambula …
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurologica …
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC. Yoshimi A, et al. Orphanet J Rare Dis. 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. Orphanet J Rare Dis. 2022. PMID: 36253820 Free PMC article. Review.
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). ...Some patients with PS experience a phenotypical change to Kearns-Sayre syndrome. In the absence of curative therapy, the …
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions ( …
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M. Brown DA, et al. Nat Rev Cardiol. 2017 Apr;14(4):238-250. doi: 10.1038/nrcardio.2016.203. Epub 2016 Dec 22. Nat Rev Cardiol. 2017. PMID: 28004807 Free PMC article. Review.
Mitochondrial abnormalities include impaired mitochondrial electron transport chain activity, increased formation of reactive oxygen species, shifted metabolic substrate utilization, aberrant mitochondrial dynamics, and altered ion homeostasis. In this Consen …
Mitochondrial abnormalities include impaired mitochondrial electron transport chain activity, increased formation of reactive …
Mitochondria and the eye-manifestations of mitochondrial diseases and their management.
Chen BS, Harvey JP, Gilhooley MJ, Jurkute N, Yu-Wai-Man P. Chen BS, et al. Eye (Lond). 2023 Aug;37(12):2416-2425. doi: 10.1038/s41433-023-02523-x. Epub 2023 Apr 25. Eye (Lond). 2023. PMID: 37185957 Free PMC article. Review.
Historically, distinct mitochondrial syndromes were recognised clinically by their ocular features. Due to their predilection for metabolically active tissue, mitochondrial diseases frequently involve the eye, resulting in a range of ophthalmic manifes …
Historically, distinct mitochondrial syndromes were recognised clinically by their ocular features. Due to their predilection …
Mitochondrial diseases.
DiMauro S. DiMauro S. Biochim Biophys Acta. 2004 Jul 23;1658(1-2):80-8. doi: 10.1016/j.bbabio.2004.03.014. Biochim Biophys Acta. 2004. PMID: 15282178 Free article. Review.
By convention, the term "mitochondrial diseases" refers to disorders of the mitochondrial respiratory chain, which is the only metabolic pathway in the cell that is under the dual control of the mitochondrial genome (mtDNA) and the nuclear genome (nDNA …
By convention, the term "mitochondrial diseases" refers to disorders of the mitochondrial respiratory chain, which is t …
179 results