[HTML][HTML] Regulator of calcineurin (RCAN): beyond down syndrome critical region

SK Lee, J Ahnn - Molecules and cells, 2020 - Elsevier
Mitochondria: RCAN1 has been shown to help maintain … Interestingly, mitochondria fusion
is increased in induced … that RCAN1 is critical to mitochondrial network maintenance in …

Mitochondrial dysfunction in Down syndrome: From pathology to therapy

KL Tan, HC Lee, PS Cheah, KH Ling - Neuroscience, 2023 - Elsevier
… analysis of the mitochondrial network supports the notion … mtDNA mutations and the imbalance
of mitochondria fusion, … Similar to other HSA21 genes, RCAN1/DSCR1 gene was found …

Targeting mitochondrial network architecture in Down syndrome and aging

…, R Genesio, M Charalambous, S Paladino… - International Journal of …, 2020 - mdpi.com
… a function of mitochondria, has been observed in Down syndrome (DS)… mitochondrial
dynamics, from fission/fusion mechanisms to … mitochondrial dynamics and maintains mitochondrial

Therapeutics for mitochondrial dysfunction-linked diseases in Down syndrome

BB Ganguly, NN Kadam - Mitochondrion, 2023 - Elsevier
… and RCAN1 during heart development perturbs mitochondrial … HSA21-encoded Down
Syndrome Critical Region (DSCR) has … the mitochondria, while fused mitochondrial network is …

New molecular and organelle alterations linked to down syndrome heart disease

L Venegas-Zamora, F Bravo-Acuña, F Sigcho… - Frontiers in …, 2022 - frontiersin.org
… existence of the Down syndrome critical region (DSCR). This … during cardiac development
before endocardial cushion fusion. The … RCAN1 depletion restores the mitochondrial network, …

[HTML][HTML] Down syndrome and Alzheimer's disease: common molecular traits beyond the amyloid precursor protein

W Gomez, R Morales, V Maracaja-Coutinho… - Aging (Albany …, 2020 - ncbi.nlm.nih.gov
… (RCAN1), also called the DS critical region gene 1 (DSCR1) (… RCAN1 helps maintain a
more fused mitochondrial network … expression level of Down Syndrome Critical Region 9 (DSCR9…

Overexpression of RCAN1, a Gene on Human Chromosome 21, Alters Cell Redox and Mitochondrial Function in Enamel Cells

Y Li, V Costiniti, GH Souza Bomfim, M Neginskaya… - Cells, 2022 - mdpi.com
… regulator of calcineurin 1 (RCAN1) in the maturation stage [2]; however, its function in
enamel formation is unknown. RCAN1 (also called Down syndrome candidate region 1 (DSCR1)) …

Genetics and molecular basis of congenital heart defects in Down syndrome: role of extracellular matrix regulation

N Mollo, R Scognamiglio, A Conti, S Paladino… - International Journal of …, 2023 - mdpi.com
… before endocardial cushion fusion. Its overexpression, due to the … the overexpression of
DYRK1A and RCAN1 genes in DS may be … consisted of genes coding for mitochondrial proteins …

Brain mitochondrial bioenergetics in genetic neurodevelopmental disorders: focus on Down, Rett and fragile X syndromes

D Valenti, RA Vacca - International Journal of Molecular Sciences, 2023 - mdpi.com
Down syndrome (DS, OMIM #190685) is a genetic neurodevelopmental disease that is …
mitochondrial biogenesis and fusion/fission dynamics also lead to bioenergetics defects, network

Brain oxidative stress and pathophysiological significance in Down syndrome

K Ishihara - Factors Affecting Neurodevelopment, 2021 - Elsevier
… , which contains a fusion of the Mrpl39-Zbtb21 region including the … the regulator of calcineurin
1 (Rcan1) gene may be involved … was found to be involved in regulating the mitochondrial