Results 81 to 90 of about 4,480 (201)

Integrating Genetic and Single‐Cell Genomic Data to Reveal Brain Cell‐Specific Regulation of Attention‐Deficit/Hyperactivity Disorder Risk in the Prefrontal Cortex

Brain and Behavior, Volume 15, Issue 7, July 2025.
This study uncovers causal associations between specific brain cells in the prefrontal cortex and ADHD risk through single‐cell eQTL MR and Bayesian analyses, advancing our understanding of ADHD's neurobiology. Our findings highlight novel therapeutic targets, paving the way for new treatment strategies in ADHD management.
Jiawei Gui, Ziyi Xia, Keqi Wan, Xiangli Dong, Weiming Sun   +4 more
wiley   +1 more source

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He, Kang Xie, Kang Yang, Nianhua Wang, Longbo Zhang   +4 more
wiley   +1 more source

Dyscranio-pygo-phalangea (Ullrich-Feichtiger syndrome)

Indian Journal of Ophthalmology, 1987
A rare case of Ullrich-Feichtiger Syndrome is described. It is emphasised that though there maybe some overlap with other syndromes like Trisomy 13, Smith-Lemli-Opitz &Meckel′s, it has its own identity and should not be overlooked as a ...
Sharma P, Panda A, Angra S
doaj  

Aberrant pathways in the late stages of cholesterol biosynthesis in the rat: origin and metabolic fate of unsaturated sterols relevant to the Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 2000
Minor aberrant pathways of cholesterol biosynthesis normally produce only trace levels of abnormal sterol metabolites but may assume major importance when an essential biosynthetic step is blocked.
Benfang Ruan, James Tsai, William K. Wilson, George J. Schroepfer, Jr.   +3 more
doaj   +1 more source

Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]

, 2008
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo, Gerard Vockley, Jacqueline Hoover, Jushua Michel, Laura Ferris, Lisa Kratz, Miao He, Michael Gibson, Richard Kelley   +8 more
core   +1 more source

Community and Hospital Healthcare Use by Adults With and Without Intellectual and Developmental Disabilities in Ontario, Canada, During the First 2 Years of the COVID‐19 Pandemic

Journal of Intellectual Disability Research, Volume 69, Issue 4, Page 318-327, April 2025.
ABSTRACT Background This study describes the proportion of Ontario adults with and without intellectual and developmental disabilities (IDD) who used community‐ and hospital‐based healthcare in the first 2 years of the pandemic compared with the year pre–COVID‐19. Methods Linked health administrative databases identified 87 341 adults with IDD and also
A. Durbin, R. Balogh, E. Lin, L. Palma, L. Plumptre, Y. Lunsky   +5 more
wiley   +1 more source

Cholesterol synthesis defects: sterol analysis in the diagnosis of 25 Portuguese patients [PDF]

, 2016
Os esteróis desempenham um papel fundamental nos processos fisiológicos de praticamente todos os organismos vivos. O esterol mais abundante nos seres humanos é o colesterol, o qual desempenha uma multiplicidade de funções desde a estrutural à ...
Dias, Aureliano Jorge, Leite, Mónica Sofia, Valongo, Carla, Vilarinho, Laura   +3 more
core  

Elevated Cerebrospinal Fluid Total Tau in Niemann‐Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Niemann‐Pick disease, type C1 (NPC1) is an inborn error of intracellular cholesterol transport. Impaired function of NPC1 leads to endolysosomal accumulation of unesterified cholesterol, which results in progressive neurodegeneration. Although the age of onset is variable, classical NPC1 is a pediatric disease.
Niamh X. Cawley, Ruyu Zhou, Nicole M. Farhat, James Iben, Derek M. Alexander, Rachel A. Luke, Cameron J. Padilla, Hibaaq O. Mohamed, Orsolya K. Albert, Kendall P. Robbins, Samar Rahhal, An Dang Do, Elizabeth Berry‐Kravis, Stephanie M. Cologna, Fang Liu, Forbes D. Porter   +15 more
wiley   +1 more source

Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7α-hydroxylase and 27-hydroxylase activities in rat liver

Journal of Lipid Research, 1999
The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3β-hydroxysterol Δ7-reductase, the final enzyme in the cholesterol biosynthetic pathway.
Akira Honda, Gerald Salen, Sarah Shefer, Ashok K. Batta, Megumi Honda, Guorong Xu, G. Stephen Tint, Yasushi Matsuzaki, Junichi Shoda, Naomi Tanaka   +9 more
doaj   +1 more source

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]

, 2017
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia, Dardis, Andrea, DE STEFANO, Maria Egle, Dragotto, Jessica, Erickson, Robert P., Fiorenza, Maria Teresa, Mangia, Franco, Zampieri, Stefania   +7 more
core   +1 more source