Results 61 to 70 of about 300,100 (258)

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

NF-L in cerebrospinal fluid and serum is a biomarker of neuronal damage in an inducible mouse model of neurodegeneration

, 2017
International audienceAccumulation of neurofilaments (NFs), the major constituents of the neuronal cytoskeleton, is a distinctive feature of neurological diseases and several studies have shown that soluble NFs can be detected in the cerebrospinal fluid (
Pascal Barneoud, Brureau, Anthony, Schussler, Nathalie, Philippe Bertrand, Hamon, Stéphanie, Pradier, Laurent, Anthony Brureau, Jean-Claude Guillemot, Stéphanie Hamon, Bertrand, Philippe, Véronique Blanchard-Bregeon, Catherine Pech, Barneoud, Pascal, Pascal Chaillou, Nathalie Schussler, Laurent Pradier, Pech, Catherine, Blanchard-Bregeon, Véronique, Chaillou, Pascal, Guillemot, Jean-Claude, Thomas Rooney, Rooney, Thomas   +21 more
core   +1 more source

Remaining neurodegeneration metrics for the rotenone exposure.

, 2023
Remaining neurodegeneration metrics for the rotenone exposure.
Joel Meyer (429955), Zachary Kalmanson (16510499), Jessica Hartman (57940), Andrew S. Clark (16510496), Adriana San-Miguel (2052883), Katherine Morton (3776974)   +5 more
core   +1 more source

Dimethyl Fumarate, But Not Rituximab, Reduces Serum GFAP Levels and PIRMA in Relapsing–Remitting MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) levels are believed to reflect mainly acute and chronic disease processes in multiple sclerosis (MS), respectively. In this study, we investigated whether dimethyl fumarate (DMF) and rituximab (RTX) differentially affect these biomarkers.
F. Shawket, J. Lycke, J. Salzer, F. Piehl, K. Fink, N. Lange, J. Mellergård, C. Malmeström, P. Sundström, I. Erngren, A. al‐Grety, E. Freyhult, K. Kultima, J. Burman, A. Svenningsson   +14 more
wiley   +1 more source

Heart fatty acid binding protein and Aβ-associated Alzheimer’s neurodegeneration [PDF]

, 2013
Background Epidemiological and molecular findings suggest a relationship between Alzheimer’s disease (AD) and dyslipidemia, although the nature of this association is not well understood ...
McEvoy, LK, Blennow, Kaj,, Brewer, JB, Zetterberg, H, Desikan, RS, Zetterberg, Henrik,, Zetterberg, Henrik, Andreassen, Ole A, Hyman, Bradley T, Holland, Dominic, Desikan, Rahul S, Thompson, Wesley K, Dale, Anders M, Dale, AM, Hess, CP, Blennow, K, Hyman, BT, Brewer, James B, Thompson, WK, Holland, D, Andreassen, OA, Blennow, Kaj, McEvoy, Linda K, Hess, Christopher P   +23 more
core   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Glycation of alpha-synuclein enhances aggregation and neuroinflammatory responses

npj Parkinson's Disease
The risk of developing Parkinson’s disease (PD) is elevated in individuals with type 2 diabetes (T2DM), but the molecular pathways underlying this link remain unclear.
Eftychia Vasili, Annekatrin König, Mohammed Al-Azzani, Clara Bosbach, Luisa Maria Gatzemeier, Searlait Thom, Ana Chegão, Hugo Vicente Miranda, Claudia Steinem, Daniel Erskine, Tiago F. Outeiro   +10 more
doaj   +1 more source

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird, Haley McQuown, Jihyun Park, Samuel J. Teener, Ian F. Webber‐Davis, Andrew D. Carter, Dae‐Gyu Jang, Eva L. Feldman, Stephen A. Goutman, Benjamin J. Murdock   +9 more
wiley   +1 more source

A study of neurodegeneration and neuroprotection in Nothobranchius guentheri [PDF]

, 2012
Includes abstract.Includes bibliographical references.This thesis details a study into aging-related neurodegeneration of Nothobranchius guentheri and the affect of resveratrol-treatment on this neurodegeneration.
Genade, Tyrone
core   +1 more source

Longitudinal change in ATN biomarkers in cognitively normal individuals

Alzheimer’s Research & Therapy, 2022
Background Biomarkers for amyloid, tau, and neurodegeneration (ATN) have predictive value for clinical progression, but it is not clear how individuals move through these stages.
Jarith L. Ebenau, Denise Visser, Lior A. Kroeze, Mardou S. S. A. van Leeuwenstijn, Argonde C. van Harten, Albert D. Windhorst, Sandeep V. S. Golla, Ronald Boellaard, Philip Scheltens, Frederik Barkhof, Bart N. M. van Berckel, Wiesje M. van der Flier   +11 more
doaj   +1 more source