Mitochondrial copper in human genetic disorders
Copper is an essential micronutrient that serves as a cofactor for enzymes involved in
diverse physiological processes, including mitochondrial energy generation. Copper enters …
diverse physiological processes, including mitochondrial energy generation. Copper enters …
The role of Fe, Zn, and Cu in pregnancy
K Grzeszczak, S Kwiatkowski, D Kosik-Bogacka - Biomolecules, 2020 - mdpi.com
Iron (Fe), copper (Cu), and zinc (Zn) are microelements essential for the proper functioning
of living organisms. These elements participatein many processes, including cellular …
of living organisms. These elements participatein many processes, including cellular …
The molecular and cellular basis of copper dysregulation and its relationship with human pathologies
MT Maung, A Carlson, M Olea‐Flores… - The FASEB …, 2021 - Wiley Online Library
Copper (Cu) is an essential micronutrient required for the activity of redox‐active enzymes
involved in critical metabolic reactions, signaling pathways, and biological functions …
involved in critical metabolic reactions, signaling pathways, and biological functions …
[HTML][HTML] Clinical application of genome and exome sequencing as a diagnostic tool for pediatric patients: a scoping review of the literature
Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …
Copper imbalance in Alzheimer's disease and its link with the amyloid hypothesis: Towards a combined clinical, chemical, and genetic etiology
The cause of Alzheimer's disease (AD) is incompletely defined. To date, no mono-causal
treatment has so far reached its primary clinical endpoints, probably due to the complexity …
treatment has so far reached its primary clinical endpoints, probably due to the complexity …
[HTML][HTML] Classification and differential diagnosis of Wilson's disease
W Hermann - Annals of translational medicine, 2019 - ncbi.nlm.nih.gov
Wilson's disease is characterized by hepatic and extrapyramidal movement disorders (EPS)
with variable manifestation primarily between age 5 and 45. This variability often makes an …
with variable manifestation primarily between age 5 and 45. This variability often makes an …
Coenzyme A biochemistry: from neurodevelopment to neurodegeneration
Coenzyme A (CoA) is an essential cofactor in all living organisms. It is involved in a large
number of biochemical processes functioning either as an activator of molecules with …
number of biochemical processes functioning either as an activator of molecules with …
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
A Matsumoto, S Kano, N Kobayashi, M Matsuki… - Scientific Reports, 2024 - nature.com
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the
ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old …
ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old …
Genetic disorders associated with metal metabolism
M Umair, M Alfadhel - Cells, 2019 - mdpi.com
Genetic disorders associated with metal metabolism form a large group of disorders and
mostly result from defects in the proteins/enzymes involved in nutrient metabolism and …
mostly result from defects in the proteins/enzymes involved in nutrient metabolism and …
Acetyl-CoA flux regulates the proteome and acetyl-proteome to maintain intracellular metabolic crosstalk
Abstract AT-1/SLC33A1 is a key member of the endoplasmic reticulum (ER) acetylation
machinery, transporting acetyl-CoA from the cytosol into the ER lumen where acetyl-CoA …
machinery, transporting acetyl-CoA from the cytosol into the ER lumen where acetyl-CoA …