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Quoted phrase not found in phrase index: "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes"
Page 1
Leigh syndrome.
Rahman S. Rahman S. Handb Clin Neurol. 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. Handb Clin Neurol. 2023. PMID: 36813320 Review.
Over the last six decades it has emerged that this complex neurodegenerative disorder encompasses more than 100 separate monogenic disorders associated with enormous clinical and biochemical heterogeneity. This chapter discusses clinical, biochemical and neuropathol …
Over the last six decades it has emerged that this complex neurodegenerative disorder encompasses more than 100 separate monog …
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H. Deneubourg C, et al. Autophagy. 2022 Mar;18(3):496-517. doi: 10.1080/15548627.2021.1943177. Epub 2021 Aug 19. Autophagy. 2022. PMID: 34130600 Free PMC article.
Primary dysfunction of autophagy due to Mendelian defects affecting core components of the autophagy machinery or closely related proteins have recently emerged as an important cause of genetic disease. ...The differential diagnosis comprises a wide range of other multisys …
Primary dysfunction of autophagy due to Mendelian defects affecting core components of the autophagy machinery or closely related pro …
C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
Wang T, Liu H, Itoh K, Oh S, Zhao L, Murata D, Sesaki H, Hartung T, Na CH, Wang J. Wang T, et al. Cell Metab. 2021 Mar 2;33(3):531-546.e9. doi: 10.1016/j.cmet.2021.01.005. Epub 2021 Feb 4. Cell Metab. 2021. PMID: 33545050 Free PMC article.
In mitochondria, C9orf72 specifically stabilizes translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), a crucial factor for the assembly of OXPHOS complex I. ...The mitochondrial complex I function is impaired in C9orf72-lin …
In mitochondria, C9orf72 specifically stabilizes translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), a crucial …
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F. El-Hattab AW, et al. Cell Calcium. 2016 Sep;60(3):199-206. doi: 10.1016/j.ceca.2016.03.003. Epub 2016 Mar 4. Cell Calcium. 2016. PMID: 26996063 Review.
Impaired mitochondrial function in various tissues and organs results in the multi-organ manifestations of mitochondrial diseases including epilepsy, intellectual disability, skeletal and cardiac myopathies, hepatopathies, endocrinopathies, and nephropathies. …
Impaired mitochondrial function in various tissues and organs results in the multi-organ manifestations of mitochondrial di …
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C. Zeviani M, et al. Medicine (Baltimore). 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. Medicine (Baltimore). 1998. PMID: 9465864 Free article. Review.
The latter encodes a few essential components of the mitochondrial respiratory chain and has unique molecular and genetic properties that account for some of the peculiar features of mitochondrial disorders. ...Given the complexity of mitocho …
The latter encodes a few essential components of the mitochondrial respiratory chain and has unique molecular and genet …
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O'Leary M, Boesch S, Jech R, Bakhtiari S, Jin SC, Wilbert F, Kruer MC, Wortmann SB, Eckenweiler M, Mayr JA, Distelmaier F, Steinfeld R, Winkelmann J, Prokisch H. Zech M, et al. Ann Neurol. 2022 Feb;91(2):225-237. doi: 10.1002/ana.26293. Epub 2022 Jan 20. Ann Neurol. 2022. PMID: 34954817 Free PMC article.
Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare. We aimed at expanding the spectrum of ATPase-related diseases. METHODS: Whole-exome sequencing in cohorts with 2,962 patients diagnosed with mitochondrial disease and/o …
Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare. We aimed at expanding the spectrum of ATPa …
The clinical maze of mitochondrial neurology.
DiMauro S, Schon EA, Carelli V, Hirano M. DiMauro S, et al. Nat Rev Neurol. 2013 Aug;9(8):429-44. doi: 10.1038/nrneurol.2013.126. Epub 2013 Jul 9. Nat Rev Neurol. 2013. PMID: 23835535 Free PMC article. Review.
Mitochondrial diseases involve the respiratory chain, which is under the dual control of nuclear and mitochondrial DNA (mtDNA). ...Mendelian mitochondrial defects can affect five components of mitochondrial biology: subunits …
Mitochondrial diseases involve the respiratory chain, which is under the dual control of nuclear and mitochon …
Spectrum of combined respiratory chain defects.
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Mayr JA, et al. J Inherit Metab Dis. 2015 Jul;38(4):629-40. doi: 10.1007/s10545-015-9831-y. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778941 Free PMC article. Review.
Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstr …
Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly …
Mitochondrial hepatopathies in the newborn period.
Fellman V, Kotarsky H. Fellman V, et al. Semin Fetal Neonatal Med. 2011 Aug;16(4):222-8. doi: 10.1016/j.siny.2011.05.002. Epub 2011 Jun 15. Semin Fetal Neonatal Med. 2011. PMID: 21680270 Review.
Liver disorder in association with a respiratory chain deficiency may be overlooked since liver dysfunction is common in severely sick newborn infants. ...A clinical picture with fetal growth restriction, postnatal lactacidosis, hypoglycemia, coagulopathy, an …
Liver disorder in association with a respiratory chain deficiency may be overlooked since liver dysfunction is common i …
Gastrointestinal and hepatic manifestations of mitochondrial disorders.
Rahman S. Rahman S. J Inherit Metab Dis. 2013 Jul;36(4):659-73. doi: 10.1007/s10545-013-9614-2. Epub 2013 May 15. J Inherit Metab Dis. 2013. PMID: 23674168 Review.
Inherited defects of oxidative phosphorylation lead to heterogeneous, often multisystem, mitochondrial diseases. ...An approach to diagnosis of these complex disorders is presented, together with a genetic classification, including mitochondrial …
Inherited defects of oxidative phosphorylation lead to heterogeneous, often multisystem, mitochondrial diseases. ...An …
148 results