Results 231 to 240 of about 1,374,243 (286)

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
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

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Ubiquitin ligase ITCH regulates life cycle of SARS-CoV-2 virus. [PDF]

Elife
Xiang Q, Wouters C, Chang P, Lu YN, Liu M, Wang H, Heine H, Qian S, Yang J, Pekosz A, Zhang Y, Wang J.   +11 more
europepmc   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Computational analysis of non-synonymous SNPs in the sheep MC4R gene. [PDF]

J Genet Eng Biotechnol
Hoda A, Ajçe S, Mikerezi I, Koleci X.
europepmc   +1 more source

Nature's economy as blueprint: regional overlap & block-based algorithm for protein design. [PDF]

Front Bioinform
Retana-Fonseca HA, Damián-Tentle R, Pineda LA, Altamirano-Bustamante MM.   +3 more
europepmc   +1 more source

ICTV Virus Taxonomy Profile: <i>Rhabdoviridae</i> 2026. [PDF]

J Gen Virol
Walker PJ, Bejerman N, Blasdell KR, Debat H, Dietzgen RG, Fooks AR, Freitas-Astúa J, Garver K, Kondo H, Ramos-González PL, Shi M, Tesh RB, Tordo N, Vasilakis N, Whitfield AE.   +14 more
europepmc   +1 more source

Folding the message: mRNA structure as a regulatory layer of human mitochondrial gene expression. [PDF]

Biochim Biophys Acta Mol Cell Res
Ahn A, Hong S, Brischigliaro M, Fontanesi F, Barrientos A.   +4 more
europepmc   +1 more source

Structural basis of ligand selectivity in FAD/NAD(P)H-dependent dehydrogenases: insights from trypanothione reductase and type II NADH dehydrogenase. [PDF]

Protein Sci
Perrone GCM, Spadone S, Francavilla AL, Morselli S, Todisco S, Ortalli M, Mendoza-Roldan JA, Scaglione V, Sgobba MN, Guerra L, Belluti F, Varani S, Otranto D, De Grassi A, Volpicella M, Pierri CL.   +15 more
europepmc   +1 more source