Results 151 to 160 of about 32,867 (333)

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

open access: yesBrain Pathology, EarlyView.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li   +7 more
wiley   +1 more source

Structure of a novel acyltransferase [PDF]

open access: yesActa Crystallographica Section A Foundations of Crystallography, 2006
Richard R. Bott   +8 more
openaire   +2 more sources

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

open access: yesClinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot   +13 more
wiley   +1 more source

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

open access: yesClinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel   +10 more
wiley   +1 more source

Glutaminase‐1 Mediated Glutaminolysis to Glutathione Synthesis Maintains Redox Homeostasis and Modulates Ferroptosis Sensitivity in Cancer Cells

open access: yesCell Proliferation, EarlyView.
GLS1‐mediated glutaminolysis supports GSH synthesis in cancer cells. GLS1 KO increases ROS, downregulates GPX4, and upregulates GPX1, making cells more sensitive to ferroptosis. Combining GLS1 or GPX1 inhibitors with a GPX4 inhibitor synergistically suppresses cancer growth.
Changsen Bai   +13 more
wiley   +1 more source

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