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Impaired autophagy and APP processing in Alzheimer's disease: The potential role of Beclin 1 interactome.
Salminen A, Kaarniranta K, Kauppinen A, Ojala J, Haapasalo A, Soininen H, Hiltunen M. Salminen A, et al. Prog Neurobiol. 2013 Jul-Aug;106-107:33-54. doi: 10.1016/j.pneurobio.2013.06.002. Epub 2013 Jul 1. Prog Neurobiol. 2013. PMID: 23827971 Review.
The accumulation of amyloid-beta-containing neuritic plaques and intracellular tau protein tangles are key histopathological hallmarks of Alzheimer's disease (AD). This type of pathology clearly indicates that the mechanisms of neuronal housekeeping and protein quality con …
The accumulation of amyloid-beta-containing neuritic plaques and intracellular tau protein tangles are key histopathological hallmarks of Al …
Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.
Kaur P, Sharma S, Kadavigere R, Girisha KM, Shukla A. Kaur P, et al. Ann Hum Genet. 2020 Jul;84(4):345-351. doi: 10.1111/ahg.12377. Epub 2020 Mar 2. Ann Hum Genet. 2020. PMID: 32124427 Review.
Leigh syndrome due to complex II deficiency constitutes 2% to 7% of these cases. Previously, nine individuals with Leigh syndrome have been reported with pathogenic variants in SDHB, which encodes for the iron-sulfur cluster subunit of mitochondrial respirato …
Leigh syndrome due to complex II deficiency constitutes 2% to 7% of these cases. Previously, nine individuals with Leigh syndr …
Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA. Meimaridou E, et al. Mol Cell Endocrinol. 2013 May 22;371(1-2):195-200. doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29. Mol Cell Endocrinol. 2013. PMID: 23279877 Review.
Familial Glucocorticoid deficiency (FGD), in which the adrenal cortex fails to produce glucocorticoids, was first shown to be caused by defects in the receptor for ACTH (MC2R) or its accessory protein (MRAP). Certain mutations in the steroidogenic acute regulatory protein …
Familial Glucocorticoid deficiency (FGD), in which the adrenal cortex fails to produce glucocorticoids, was first shown to be caused …
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.
The most common liver manifestation caused by mutated mitochondrial DNA (deletion) is Pearson syndrome. Recently, mutations in several nuclear DNA genes have been identified that lead to mitochondrial hepatopathy, e.g. mitochondrial depletion syndrome …
The most common liver manifestation caused by mutated mitochondrial DNA (deletion) is Pearson syndrome. Recently, mutations in severa …
Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.
Tragni V, Primiano G, Tummolo A, Cafferati Beltrame L, La Piana G, Sgobba MN, Cavalluzzi MM, Paterno G, Gorgoglione R, Volpicella M, Guerra L, Marzulli D, Servidei S, De Grassi A, Petrosillo G, Lentini G, Pierri CL. Tragni V, et al. Molecules. 2022 May 29;27(11):3494. doi: 10.3390/molecules27113494. Molecules. 2022. PMID: 35684429 Free PMC article. Review.
Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial genes, encoding mitochondrial proteins, or non-protein-coding mitochondrial RNA. ...
Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial genes, encoding mitochondr