Results 51 to 60 of about 11,861 (217)

Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis [PDF]

, 2007
Background Vascular endothelial growth factor (VEGF) has neurotrophic activity which is mediated by its main agonist receptor, VEGFR2. Dysregulation of VEGF causes motor neurone degeneration in a mouse model of amyotrophic lateral sclerosis (ALS), and
Brockington, A., Hartley, J., Nixon, H., Shaw, P.J., Wokke, B.   +4 more
core   +3 more sources

Combination of Serum Neurofilament Light Chain and Serum Cardiac Troponin T as Biomarkers Improves Diagnostic Accuracy in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective We aimed to evaluate the clinical utility of serum neurofilament light chain (sNfL) and cardiac troponin T (cTnT) in amyotrophic lateral sclerosis (ALS) and assess whether their combination improves diagnostic accuracy. Methods We retrospectively analyzed 293 ALS patients, 85 neurodegenerative disease controls, and 29 healthy controls.
Paula Lindenborn, Rachel Fabian, Torsten Grehl, Huelya Nazlican, Thomas Meyer, Sarah Bernsen, Patrick Weydt   +6 more
wiley   +1 more source

Targeted Molecular Therapies for SBMA [PDF]

, 2015
Spinal and bulbar muscular atrophy (SBMA) is a late-onset neuromuscular disease caused by a polyglutamine expansion in the androgen receptor gene which results in progressive spinal and bulbar motor neuron degeneration, and muscle atrophy.
Greensmith, L, Malik, B, Rinaldi, C
core   +1 more source

Anatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl, We Fong Siah, Efstratios Karavasilis, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Foteini Christidi, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA. [PDF]

, 2014
Macroautophagy (hereafter autophagy) is a key pathway in neurodegeneration. Despite protective actions, autophagy may contribute to neuron demise when dysregulated.
Batlevi, Yakup, Carromeu, Cassiano, Cortes, Constanza J, Frankowski, Harald, Garden, Gwenn A, Ivanov, Nishi, La Spada, Albert R, Le, Amy, Miranda, Helen C, Muotri, Alysson R, Sopher, Bryce L, Young, Jessica E   +11 more
core  

Disrupting SUMOylation enhances transcriptional function and ameliorates polyglutamine androgen receptor-mediated disease. [PDF]

, 2015
Expansion of the polyglutamine (polyQ) tract within the androgen receptor (AR) causes neuromuscular degeneration in individuals with spinobulbar muscular atrophy (SBMA).
Chua, Jason P, Giorgetti, Elisa, Higgins, Jake, Iñiguez-Lluhí, Jorge A, Lieberman, Andrew P, McEachin, Richard C, Merry, Diane E, Montie, Heather L, Mukherjee, Sarmistha, Reddy, Satya L, Robins, Diane M, Yu, Zhigang   +11 more
core   +3 more sources

Molecular-targeted therapies for spinal and bulbar muscular atrophy

Rinsho Shinkeigaku, 2009
Spinal and bulbar muscular atrophy (SBMA) is a polyglutamine-mediated lower motor neuron disease characterized by slowly progressive muscle weakness and atrophy. The cause of this disease is the expansion of a trinucleotide CAG repeat, which encodes the polyglutamine tract, within the first exon of the androgen receptor (AR) gene.
Masahisa, Katsuno, Haruhiko, Banno, Keisuke, Suzuki, Hiroaki, Adachi, Fumiaki, Tanaka, Gen, Sobue   +5 more
openaire   +3 more sources

The Epidemiology of Primary Lateral Sclerosis: Results from a Population‐Based Cohort

Annals of Neurology, EarlyView.
Objective In this population‐based study, we described the epidemiology of primary lateral sclerosis (PLS) in northern Italy and compared the clinical characteristics of patients with PLS to those with predominant upper motor neuron (PUMN) involvement and classic amyotrophic lateral sclerosis (ALS).
Rosario Vasta, Enrico Matteoni, Giorgio Pellegrino, Antonio Canosa, Umberto Manera, Francesca Palumbo, Maurizio Grassano, Sara Cabras, Alessandra Maccabeo, Fabrizio D'Ovidio, Gabriele Mora, Salvatore Gallone, Elisa D'Angelo, Letizia Mazzini, Fabiola De Marchi, Cristina Moglia, Adriano Chiò, Andrea Calvo   +17 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis [PDF]

, 2019
The word amyotrophic is derived from Greek, and means “without nourishment to muscles”, lateral means to the sides and sclerosis means hardened (“What is ALS?,” n.d.).
Georgetson, Anastasia M.
core   +1 more source

Hsp70 and Hsp40 inhibit an inter-domain interaction necessary for transcriptional activity in the androgen receptor. [PDF]

, 2019
Molecular chaperones such as Hsp40 and Hsp70 hold the androgen receptor (AR) in an inactive conformation. They are released in the presence of androgens, enabling transactivation and causing the receptor to become aggregation-prone.
Banduseela, Varuna C, Brun-Heath, Isabelle, Chiesa, Giulio, Di Sanza, Claudio, Eftekharzadeh, Bahareh, Felli, Isabella C, García, Jesús, Gestwicki, Jason E, Giorgetti, Elisa, Lieberman, Andrew P, Marin-Argany, Marta, Martínez-Cristóbal, Paula, Nath, Samir R, Nebreda, Ángel R, Pierattelli, Roberta, Rauch, Jennifer N, Salvatella, Xavier, Schwarz, Daniel MC, Shao, Hao, Yu, Zhigang   +19 more
core   +2 more sources