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Down syndrome--recent progress and future prospects.
Wiseman FK, Alford KA, Tybulewicz VL, Fisher EM. Wiseman FK, et al. Hum Mol Genet. 2009 Apr 15;18(R1):R75-83. doi: 10.1093/hmg/ddp010. Hum Mol Genet. 2009. PMID: 19297404 Free PMC article. Review.
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. ...
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, in …
Modeling Down syndrome in animals from the early stage to the 4.0 models and next.
Muñiz Moreno MDM, Brault V, Birling MC, Pavlovic G, Herault Y. Muñiz Moreno MDM, et al. Prog Brain Res. 2020;251:91-143. doi: 10.1016/bs.pbr.2019.08.001. Epub 2019 Oct 22. Prog Brain Res. 2020. PMID: 32057313 Review.
The genotype-phenotype relationship and the physiopathology of Down Syndrome (DS) have been explored in the last 20 years with more and more relevant mouse models. ...
The genotype-phenotype relationship and the physiopathology of Down Syndrome (DS) have been explored in the last 20 years with …
Lysosomal dysfunction in Down syndrome and Alzheimer mouse models is caused by v-ATPase inhibition by Tyr(682)-phosphorylated APP betaCTF.
Im E, Jiang Y, Stavrides PH, Darji S, Erdjument-Bromage H, Neubert TA, Choi JY, Wegiel J, Lee JH, Nixon RA. Im E, et al. Sci Adv. 2023 Jul 28;9(30):eadg1925. doi: 10.1126/sciadv.adg1925. Epub 2023 Jul 26. Sci Adv. 2023. PMID: 37494443 Free PMC article.
Herein, we show that amyloid precursor protein (APP), linked to early-onset AD in Down syndrome (DS), acts directly via its beta-C-terminal fragment (betaCTF) to disrupt lysosomal vacuolar (H(+))-adenosine triphosphatase (v-ATPase) and acidification. ...
Herein, we show that amyloid precursor protein (APP), linked to early-onset AD in Down syndrome (DS), acts directly via its be …
State-of-the-art therapy for Down syndrome.
Lorenzon N, Musoles-Lleó J, Turrisi F, Gomis-González M, De La Torre R, Dierssen M. Lorenzon N, et al. Dev Med Child Neurol. 2023 Jul;65(7):870-884. doi: 10.1111/dmcn.15517. Epub 2023 Jan 24. Dev Med Child Neurol. 2023. PMID: 36692980 Review.
In the last decade, an important effort was made in the field of Down syndrome to find new interventions that improve cognition. These therapies have added to the traditional symptomatic treatments and to the drugs for treating Alzheimer disease in the general popul …
In the last decade, an important effort was made in the field of Down syndrome to find new interventions that improve cognitio …
Mitovesicles are a novel population of extracellular vesicles of mitochondrial origin altered in Down syndrome.
D'Acunzo P, Pérez-González R, Kim Y, Hargash T, Miller C, Alldred MJ, Erdjument-Bromage H, Penikalapati SC, Pawlik M, Saito M, Saito M, Ginsberg SD, Neubert TA, Goulbourne CN, Levy E. D'Acunzo P, et al. Sci Adv. 2021 Feb 12;7(7):eabe5085. doi: 10.1126/sciadv.abe5085. Print 2021 Feb. Sci Adv. 2021. PMID: 33579698 Free PMC article.
Mitochondrial dysfunction is an established hallmark of aging and neurodegenerative disorders such as Down syndrome (DS) and Alzheimer's disease (AD). Using a high-resolution density gradient separation of extracellular vesicles (EVs) isolated from murine and human …
Mitochondrial dysfunction is an established hallmark of aging and neurodegenerative disorders such as Down syndrome (DS) and A …
Down syndrome, beta-amyloid and neuroimaging.
Head E, Helman AM, Powell D, Schmitt FA. Head E, et al. Free Radic Biol Med. 2018 Jan;114:102-109. doi: 10.1016/j.freeradbiomed.2017.09.013. Epub 2017 Sep 19. Free Radic Biol Med. 2018. PMID: 28935420 Free PMC article. Review.
This review focuses on the role of Abeta in AD pathogenesis in Down syndrome and current approaches for imaging Abeta in vivo. We will describe how Abeta deposits with age, the posttranslational modifications that can occur, and detection in biofluids. ...
This review focuses on the role of Abeta in AD pathogenesis in Down syndrome and current approaches for imaging Abeta in vivo. …
Effect of hippotherapy on balance, functional mobility, and functional independence in children with Down syndrome: randomized controlled trial.
Kaya Y, Saka S, Tuncer D. Kaya Y, et al. Eur J Pediatr. 2023 Jul;182(7):3147-3155. doi: 10.1007/s00431-023-04959-5. Epub 2023 Apr 26. Eur J Pediatr. 2023. PMID: 37186034 Clinical Trial.
Impaired muscle strength, proprioceptive and vestibular deficits, and orthopedic dysfunction are common disorders associated with Down syndrome (DS). Hippotherapy uses the horses' multidimensional movement to improve posture, balance, and overall function, both moto …
Impaired muscle strength, proprioceptive and vestibular deficits, and orthopedic dysfunction are common disorders associated with Down …
Down syndrome: Parental experiences of a postnatal diagnosis.
Grane FM, Lynn F, Balfe J, Molloy E, Marsh L. Grane FM, et al. J Intellect Disabil. 2023 Dec;27(4):1032-1044. doi: 10.1177/17446295221106151. Epub 2022 Jun 14. J Intellect Disabil. 2023. PMID: 35698902 Free PMC article. Review.
Globally it is estimated that Down syndrome occurs in 1 in 800 live births (Bull 2020). It has also been estimated that the incidence of Down syndrome occurs in 1/444 live births in the Republic of Ireland. Given the prevalence of Down syndro …
Globally it is estimated that Down syndrome occurs in 1 in 800 live births (Bull 2020). It has also been estimated that the in …
Pharmacotherapy of Down's Syndrome: When and Which?
Tayebati SK, Cecchi A, Martinelli I, Carboni E, Amenta F. Tayebati SK, et al. CNS Neurol Disord Drug Targets. 2019;18(10):750-757. doi: 10.2174/1871527318666191114092924. CNS Neurol Disord Drug Targets. 2019. PMID: 31724517 Review.
Down Syndrome (DS) is an essential genetic disease that involves many other body systems along with cerebral functions. ...
Down Syndrome (DS) is an essential genetic disease that involves many other body systems along with cerebral functions. ...
Down syndrome.
Takashima S. Takashima S. Curr Opin Neurol. 1997 Apr;10(2):148-52. doi: 10.1097/00019052-199704000-00013. Curr Opin Neurol. 1997. PMID: 9146996 Review.
Down syndrome, trisomy of chromosome 21, is well investigated because it is a genetic disease with characteristic mental retardation and precocious dementia of Alzheimer type. Maternal serum markers of human chorionic gonadotrophin unconjugated estriol and amyloid p …
Down syndrome, trisomy of chromosome 21, is well investigated because it is a genetic disease with characteristic mental retar …
7,277 results