D Budinger, S Barral, AKS Soo, MA Kurian - The Lancet Neurology, 2021 - thelancet.com
Manganese is an essential trace metal. The dysregulation of manganese seen in a broad spectrum of neurological disorders reflects its importance in brain development and key …
S Anagianni, K Tuschl - Current neurology and neuroscience reports, 2019 - Springer
Abstract Purpose of Review This article provides an overview of the pathogenesis, clinical presentation and treatment of inherited manganese transporter defects. Recent Findings …
Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined …
A Pasquadibisceglie, MC Bonaccorsi di Patti, G Musci… - Biomolecules, 2023 - mdpi.com
Iron is an essential transition metal for its involvement in several crucial biological functions, the most notable being oxygen storage and transport. Due to its high reactivity and potential …
JWW Winslow, KH Limesand, N Zhao - International journal of molecular …, 2020 - mdpi.com
As an essential nutrient, manganese is required for the regulation of numerous cellular processes, including cell growth, neuronal health, immune cell function, and antioxidant …
IF Scheiber, Y Wu, SE Morgan, N Zhao - Journal of Biological Chemistry, 2019 - ASBMB
ZIP14 (encoded by the solute carrier 39 family member 14 (SLC39A14) gene) is a manganese transporter that is abundantly expressed in the liver and small intestine. Loss-of …
E Ucuncu, K Rajamani, MSC Wilson… - Nature …, 2020 - nature.com
Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol polyphosphate metabolism is …
Congenital disorders of manganese metabolism are rare occurrences in children, and medical management of these disorders is complex and challenging. Homozygous exonic …
Impaired manganese (Mn) homeostasis can result in excess Mn accumulation in specific brain regions and neuropathology. Maintaining Mn homeostasis and detoxification is …