Results 61 to 70 of about 4,480 (201)

The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance

Glia, Volume 73, Issue 12, Page 2338-2352, December 2025.
Main Points Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons dunng rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production ...
Rose Follis, Vishwanath V. Prabhu, Bruce D. Carter   +2 more
wiley   +1 more source

Clinical diagnosis of the Smith-Lemli-Opitz type I syndrome. Case Report

Acta Médica del Centro, 2018
With a low incidence, the relatively recent finding that the Smith-Lemli-Opitz syndrome is caused by a disorder of cholesterol metabolism, increases its interest as an expression of a new path for better knowledge of monogenic syndromes with multiple ...
Noel Taboada Lugo, Caridad María Valle Sánchez, Clara León Mollineda   +2 more
doaj  

Phenotype and Genotype of Portuguese Patients with Smith-Lemli-Opitz Syndrome [PDF]

, 2012
A síndrome de Smith-Lemli-Opitz (SLOS) é uma síndrome polimalformativa de transmissão autossómica recessiva causada por um défice metabólico da biossíntese do colesterol, que se caracteriza por dismorfias craniofaciais, anomalias congénitas de vários ...
Bandeira, A, Cardoso, ML, Ferreira, I, Gaspar, A, Janeiro, P, Lopes, A, Lourenço, T, Marques, F, Martins, E, Nunes, L, Quelhas, D, Rodrigues, M, Rodrigues, R, Sales Marques, J, Sequeira, S, Soares, G, Venâncio, M   +16 more
core  

DHCR7 as a Prognostic and Immunological Biomarker in Human Pan‐Cancer: A Comprehensive Evaluation

Cancer Reports, Volume 8, Issue 11, November 2025.
ABSTRACT Background The 7‐Dehydrocholesterol reductase (DHCR7), a critical enzyme catalyzing the final step of the cholesterol biosynthesis pathway, has gained attention for its potential role in tumorigenesis. This study systematically investigated the association between DHCR7 expression and oncogenic processes across multiple cancer types.
Xianghua Wu, Weiwei Zheng, Li Wang, Dan Lin, Zhaoxing Wu   +4 more
wiley   +1 more source

Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 2000
The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient Δ7-dehydrocholesterol reductase, which catalyzes the final step of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursors 7 ...
Petr E. Jira, Ron A. Wevers, Jan de Jong, Estela Rubio-Gozalbo, Fokje S.M. Janssen-Zijlstra, Arno F.J. van Heyst, Rob C.A. Sengers, Jan A.M. Smeitink   +7 more
doaj   +1 more source

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist [PDF]

, 2014
Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized.
Arie Oksenberg, Natan Gadoth
core   +1 more source

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Palliative care should be an integral part of follow‐up for patients with life‐limiting/life‐threatening conditions, irrespective of age and diagnosis. Many patients with inherited metabolic disorders (IMD) have palliative care needs due to multi‐systemic conditions without curative treatment options.
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, Julia Neugebauer, Francois Eyskens, Dorothea Haas, Karin Mossler, Antije Enekwe, Beata Kiec‐Wilk, Lien My Diep, Cinzia Maria Bellettato, Boris Zernikow, Maurizio Scarpa, Shamima Rahman, Trine Tangeraas, MetabERN collaboration group on palliative care, Aasne K Aarsand, Patrício Aguiar, Brassier Anaϊs, Jean‐Baptiste Arnoux, Madara Auzenbaha, Olga Azevedo, Anabela Oliveira Bandeira, Amaya Belanger‐Quintana, Marcello Bellusci, Nadia Belmatoug, Andrea Bordugo, Annet M Bosch, Mara Botti, Radan Brůha, Teresa Campos, Cândida Cancelinha, Giovanni Ceccarini, Graziella Cefalo, Rimante Cerkauskiene, Ellen Crushell, Paulo Castro Chaves, Anibh Martin Das, Corinne De Laet, Terry GJ Derks, Felix Distelmaier, Dries Dobbelaere, João Durães, Marc Engelen, Ana Cristina Leal das Neves Ferreira, Serena Gasperini, Urh Groselj, Sarah C Grünert, Debray François‐Guillaume, Arlindo Guimas, Evren Gumus, Sabine Weller Grønborg, Julia B Hennermann, Javier de las Heras, Hidde H Huidekoper, Mirian Ch Janssen, Pavel Ješina, Stefan Kölker, Eva M M Hoytema van Konijnenburg, Alessandro La Rosa, Svetlana Lajic, Risto Lapatto, Elisa Leão‐Teles, Vincenzo Leuzzi, Allan M Lund, Maria Carmo Macário, Martin Magner, Giacomo Marchi, Diego Martinelli, Esmeralda Martins, Mariarosa Anna Beatrice Melone, Dorothea Moeslinger, Ahmad Ardeshir Monavari, Sónia Moreira, Nicole Muschol, Marie‐Cécile Nassogne, Andreas Oberg, Thomas Opladen, Katrin Õunap, Bianca Panis, Germaine Pierre, Francesco Porta, Pilar Quijada‐Fraile, Danijela Petković Ramadža, Esmeralda Rodrigues, Alessandro Rossi, Paula Sánchez‐Pintos, Maria Cristina Schiaffino, Anke Schumann, Sinziana Stanescu, Mojca Žerjav Tanšek, Joanna Taybert, Kiarash Tazmini, Birute Tumiene, Arnaud Vanlander, Patrick Verloo, Komninaka Veroniki, Elena Verrecchia, Natalie Weinhold, Tamara Žigman, Mette Cathrine Ørngreen   +100 more
wiley   +1 more source

Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level. [PDF]

, 2020
The interest in vitamin D continues unabated with thousands of publications contributing to a vast and growing literature each year. It is widely recognized that the vitamin D receptor (VDR) and the enzymes that metabolize vitamin D are found in many ...
Bikle, Daniel D
core   +1 more source

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation‐Dependent Probe Amplification

Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
Evaluation of 80 Mexican patients with suspected 22q11.2 deletion syndrome, including detailed phenotypic characterization. Multiplex ligation‐dependent probe amplification identified both typical and atypical deletions, underscoring the need for complementary approaches to fluorescence in situ hybridization.
Thania Alejandra Aguayo‐Orozco, Horacio Rivera, Luis E. Figuera, Eduardo Esparza‐García, Francisco Javier Perea‐Díaz, Ana Rebeca Jaloma‐Cruz, Lourdes del Carmen Rizo‐de la Torre, Ma. Guadalupe Domínguez‐Quezada   +7 more
wiley   +1 more source

7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts

Journal of Lipid Research, 1998
The Smith-Lemli-Opitz syndrome (SLOS) is a common birth defect–mental retardation syndrome caused by a defect in the enzyme that reduces 7-dehydrocholesterol to cholesterol.
Megumi Honda, G.S. Tint, Akira Honda, Lien B. Nguyen, Thomas S. Chen, Sarah Shefer   +5 more
doaj   +1 more source