Triplication of HSA21 on alterations in structure and function of mitochondria

BB Ganguly, NN Kadam - Mitochondrion, 2022 - Elsevier
Triplication of genes encoded in human chromosome 21 (HSA21) is responsible for the
phenotypes of Down syndrome (DS). The dosage-imbalance of the nuclear genes and the …

[HTML][HTML] Role of the cystathionine β-synthase/H2S pathway in the development of cellular metabolic dysfunction and pseudohypoxia in down syndrome

T Panagaki, L Pecze, EB Randi, AI Nieminen, C Szabo - Redox biology, 2022 - Elsevier
Background Overexpression of the transsulfuration enzyme cystathionine-β-synthase (CBS),
and overproduction of its product, hydrogen sulfide (H 2 S) are recognized as potential …

The functional roles of S‐adenosyl‐methionine and S‐adenosyl‐homocysteine and their involvement in trisomy 21

M Caracausi, G Ramacieri, F Catapano, M Cicilloni… - …, 2024 - Wiley Online Library
The one‐carbon metabolism pathway is involved in critical human cellular functions such as
cell proliferation, mitochondrial respiration, and epigenetic regulation. In the homocysteine …

[HTML][HTML] Dysregulated systemic metabolism in a Down syndrome mouse model

DC Sarver, C Xu, LM Velez, S Aja, AE Jaffe… - Molecular …, 2023 - Elsevier
Objective Trisomy 21 is one of the most complex genetic perturbations compatible with
postnatal survival. Dosage imbalance arising from the triplication of genes on human …

Characterization of mitochondrial and metabolic alterations induced by trisomy 21 during neural differentiation

KM Prutton, JO Marentette, KN Maclean… - Free Radical Biology and …, 2023 - Elsevier
Cellular redox state directs differentiation of induced pluripotent stem cells (iPSC) by energy
metabolism control and ROS generation. As oxidative stress and mitochondrial dysfunction …

Oxidation of Hydrogen Sulfide to Polysulfide and Thiosulfate by a Carbon Nanozyme: Therapeutic Implications with an Emphasis on Down Syndrome

PJ Derry, AV Liopo, K Mouli, EA McHugh… - Advanced …, 2024 - Wiley Online Library
Hydrogen sulfide (H2S) is a noxious, potentially poisonous, but necessary gas produced
from sulfur metabolism in humans. In Down Syndrome (DS), the production of H2S is …

Oxidative stress as a candidate mechanism for accelerated neuroectodermal differentiation due to trisomy 21

KM Prutton, JO Marentette, BA Leifheit, H Esquer… - Free Radical Biology …, 2022 - Elsevier
The ubiquity of cognitive deficits and early onset Alzheimer's disease in Down syndrome
(DS) has focused much DS iPSC-based research on neuron degeneration and …

[HTML][HTML] One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage

B Vione, G Ramacieri, G Zavaroni, A Piano… - Frontiers in …, 2022 - frontiersin.org
Introduction Down syndrome (DS) is the most common chromosomal disorder and it is
caused by trisomy of chromosome 21 (Hsa21). Subjects with DS show a large heterogeneity …

[HTML][HTML] Evidence of energy metabolism alterations in cultured neonatal astrocytes derived from the ts65dn mouse model of down syndrome

BL Zampieri, ACS Costa - Brain Sciences, 2022 - mdpi.com
For many decades, neurons have been the central focus of studies on the mechanisms
underlying the neurodevelopmental and neurodegenerative aspects of Down syndrome …

[PDF][PDF] Realizing the potential of exploiting human IPSCs and their derivatives in research of Down syndrome

Y Wang, J Ni, Y Liu, D Liao, Q Zhou, X Ji, G Niu, Y Ni - Biocell, 2023 - cdn.techscience.cn
Down syndrome (DS) is a genetic condition characterized by intellectual disability, delayed
brain development, and early onset Alzheimer's disease. The use of primary neural cells …