Results 91 to 100 of about 13,979 (223)

Pediatric pharmacokinetics and pharmacodynamics of guanabenz for the treatment of vanishing white matter

Scientific Reports
Vanishing White Matter (VWM) is a leukodystrophy with cystic cerebral white matter degeneration, resulting in neurological decline and premature death. There is currently no treatment.
Linda G. Franken, Bart van Lieshout, Joshua Eugenio, Renate Verbeek, Marije Voermans, Elske van den Berg, Pierre Bet, Ron A. A. Mathôt, Dennis van der Laan, Truus E. M. Abbink, Marjo S. van der Knaap, Imke H. Bartelink   +11 more
doaj   +1 more source

Cell Type‐Specific Extracellular Vesicles in Mouse Brain: Proteomic Signatures Highlight Astrocytic GlialCAM Network and GPCR Enrichment

Glia, Volume 74, Issue 10, October 2026.
Cell type–specific EVs were isolated from mouse brain and profiled by proteomics. Each EV subtype exhibited proteomic signatures consistent with the specialized functions of its cell of origin. Astrocyte‐derived EVs (ADEVs) were enriched for the GlialCAM/MLC1 network and GPCRs.
Alba M. Lucart‐Sanchez, Edward Sellés‐Climent, Jorge Navarro‐Calvo, Guillem Pont‐Espinós, Jose A. Gomez‐Sanchez, Raúl Estévez, Luis M. Valor, Rocío Pérez‐González   +7 more
wiley   +1 more source

“IDS crossing of the Blood-Brain Barrier corrects CNS defects in MPSII mice” [PDF]

, 2010
IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice Mucopolysaccharidosis type II (MPSII), or Hunter syndrome, arises from a deficiency in iduronate 2-sulfatase (IDS), and it is characterized by progressive somatic and ...
Polito, Vinicia Assunta
core  

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1817-1830, September 2026.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, Volume 100, Issue 3, Page 655-671, September 2026.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, Volume 36, Issue 5, September 2026.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito   +19 more
wiley   +1 more source

Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy. [PDF]

, 2015
BACKGROUND Multiple acyl-CoA dehydrogenase deficiency- (MADD-), also called glutaric aciduria type 2, associated leukodystrophy may be severe and progressive despite conventional treatment with protein- and fat-restricted diet, carnitine, riboflavin ...
Slotboom, Johannes, Jean-Marc Nuoffer, Nava, Esmeralda, Matthias Gautschi, Esmeralda Nava, Johannes Slotboom, Theres Zürcher, Nuoffer, Jean-Marc, Weisstanner, Christian, Gautschi, Matthias, Zürcher, Theres, Christian Weisstanner   +11 more
core   +1 more source

MAPK dysregulation in the brain pathology of mucopolysaccharidosis IIIB disease [PDF]

, 2010
The accumulation of heparan sulfate (HS) in lysosomes is the primary consequence of the enzyme defect (α-N-acetylglucosaminidase) in Mucopolysaccharidosis type IIIB.
Cecere, Francesca
core   +1 more source

Astrocyte Regulation of CNS Inflammation and Remyelination

Brain Sciences, 2013
Astrocytes regulate fundamentally important functions to maintain central nervous system (CNS) homeostasis. Altered astrocytic function is now recognized as a primary contributing factor to an increasing number of neurological diseases.
Stephen J. Crocker, Anthony V. Sacino, Kumiko I. Claycomb, Paige N. Winokur, Kasey M. Johnson   +4 more
doaj   +1 more source