Results 81 to 90 of about 5,775 (200)

The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway

, 2003
The Menkes disease gene encodes a P-type transmembrane ATPase (ATP7A) that translocates cytosolic copper ions across intracellular membranes of compartments along the secretory pathway.
Ponnambalam, S, Monaco, Anthony P., Monaco, AP, Anthony P. Monaco, Julie Coventry, Cobbold, C, Cobbold, Christian, Ponnambalam, Sreenivasan, Christian Cobbold, Coventry, Julie, Coventry, J, Sreenivasan Ponnambalam   +11 more
core   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1601-1609, November 2026.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Reversing Temozolomide Resistance in Glioblastoma Based on Cuproptosis‐Mediated Positive Feedback Loop

Advanced Science, Volume 13, Issue 57, 14 October 2026.
To effectively reverse TMZ resistance, this work proposes a cuproptosis‐mediated positive feedback loop that integrates mitochondrial dysfunction, ATP depletion, AMPK‐p53 signaling, and glycolytic inhibition, ultimately amplifying cell death. This cuproptosis‐mediated feedback loop simultaneously disrupts multiple resistance pathways in GBM, including ...
Wenjie Feng, Rui Yang, Chang Weng, Chen Li, Wanrui Shi, Yang Chen, Yang Yang, Yi Liu, Pengfei Ge, Hao Zhang   +9 more
wiley   +1 more source

Iron and Other Metal Ions in Human Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley   +1 more source

Ischemic Stroke and Traumatic Brain Injury: Epidemiology, Molecular Pathways, and Emerging Therapies

MedComm, Volume 7, Issue 10, October 2026.
Schematic overview of secondary brain injury after ischemic stroke and traumatic brain injury. Both conditions trigger endothelial cell dysfunction, pericyte contraction, and upregulated AQP4 expression in astrocytic end‐feet, leading to blood–brain barrier disruption.
Mengzhao Feng, Qi Qin, Fang Wang, Kaiyuan Zhang, Zhihua Li, Junlei Chang, Min Yu, Fuyou Guo   +7 more
wiley   +1 more source

INTERACTIONS BETWEEN THE COG COMPLEX AND ATP7A IN NEURODEGENERATIVE DISEASE

, 2019
Menkes disease is an X-linked neurodegenerative disease related to the improper distribution of copper. This disease can result from mutations in the ATP7A copper transporter gene.
Margewich, Lindsey
core   +1 more source

Translational research investigations on ATP7A: an important human copper ATPase [PDF]

Annals of the New York Academy of Sciences, 2014
In more than 40 years since copper deficiency was delineated in pediatric subjects with Menkes disease, remarkable advances in our understanding of the clinical, biochemical, and molecular aspects of the human copper transporter ATP7A have emerged.
openaire   +2 more sources

Acute copper exposure alters tissue copper accumulation, hepatic responses, and gut microbiota composition in gibel carp (Carassius gibelio, CAS V)

Journal of the World Aquaculture Society, Volume 57, Issue 5, October 2026.
Abstract Short‐term copper exposure episodes can occur in aquaculture systems due to copper sulfate application or accidental increases in waterborne copper concentrations. However, the temporal patterns of tissue‐specific physiological responses and gut microbiota alterations during acute copper exposure remain insufficiently characterized.
Liyun Wu, Kunkun Cao, Junyan Jin, Chaoyue Li, Rui Zhang, Haokun Liu, Zhimin Zhang, Dong Han, Shouqi Xie, Ronghua Lu   +9 more
wiley   +1 more source

Exon 11 deletion in male hemizygous Atp7a^fl/Y; Clnd6Cre^+/− embryos.

, 2013
A) PCR analysis with P1 and P2 primers of yolk sac DNA of E10.5 embryos generated by crossing heterozygous floxed female mice (Atp7afl/+) with Cldn6Cre mice (Atp7a+/Y; Cldn6Cre+/+).
Gary A. Weisman (36992), Yanfang Wang (36038), Michael J. Petris (312081), Jonathan D. Gitlin (269298), Sha Zhu (312080)   +4 more
core   +1 more source

Targeted next generation sequencing for newborn screening of Menkes disease

Molecular Genetics and Metabolism Reports, 2020
Purpose: Population-based newborn screening (NBS) allows early detection and treatment of inherited disorders. For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detection by
Richard B. Parad, Stephen G. Kaler, Evan Mauceli, Tanya Sokolsky, Ling Yi, Arindam Bhattacharjee   +5 more
doaj   +1 more source