Results 61 to 70 of about 247,506 (355)

Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects [PDF]

, 1995
Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene. We report here seven male patients with a benign motor neuron syndrome highly analogous to Kennedy disease but with a normal trinucleotide ...
Baas, F. (Frank), Bolhuis, P.A. (P.), Brüggenwirth, H.T. (Hennie), Busch, H.F.M. (Herman), Jong, J.M.B.V. (Vianney) de, Jöbsis, G.J. (G.), Koelman, J.H.T.M. (Johannes ), Louwerse, I. (Ilse), Visser, M. (Marianne) de, Wiersinga, W.M. (Wilmar), Wolterman, R.A. (Ruud)   +10 more
core   +1 more source

Single‐cell insights into the role of T cells in B‐cell malignancies

FEBS Letters, EarlyView.
Single‐cell technologies have transformed our understanding of T cell–tumor cell interactions in B‐cell malignancies, revealing new T‐cell subsets, functional states, and immune evasion mechanisms. This Review synthesizes these findings, highlighting the roles of T cells in pathogenesis, progression, and therapy response, and underscoring their ...
Laura Llaó‐Cid
wiley   +1 more source

Mutant GGGGCC RNA prevents YY1 from binding to Fuzzy promoter which stimulates Wnt/β-catenin pathway in C9ALS/FTD

Nature Communications, 2023
The GGGGCC hexanucleotide repeat expansion mutation in the chromosome 9 open reading frame 72 (C9orf72) gene is a major genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD).
Zhefan Stephen Chen, Mingxi Ou, Stephanie Taylor, Ruxandra Dafinca, Shaohong Isaac Peng, Kevin Talbot, Ho Yin Edwin Chan   +6 more
doaj   +1 more source

Frontostriatal deficit in Motor Neuron Disease/Amyotrophic Lateral Sclerosis (MND/ALS) [PDF]

, 2003
So far, cognitive derangements in MND/ALS have not been widely studied. Nevertheless, it seems that in subgroups of patients cognitive functions are impaired in different degree, so that often at least two sub-types of the syndrome are reported: Motor ...
Bongioanni, Dr. P, Buoiano, Dr. G, Carboncini, Dr. MC, Magoni, Dr. M, Rossi, Dr. B   +4 more
core  

Letter to the editor: autoimmune pathogenic mechanisms in amyotrophic lateral sclerosis [PDF]

, 2018
The innate immune system may affect the function and survival of motor neurons in ALS by at least three mechanisms. First, there is evidence to suggest that aggregates of mutant SOD1—which is derived from microglial and astroglial cells—activate ...
de Vincentiis, M., De Virgilio, A., Gallo, A., Greco, A., Inghilleri, M., Ralli, M.   +5 more
core   +1 more source

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa

FEBS Letters, EarlyView.
Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää, Ahmed B. Montaser, Henri Leinonen   +2 more
wiley   +1 more source

Multi-region brain transcriptomic analysis of amyotrophic lateral sclerosis reveals widespread RNA alterations and substantial cerebellum involvement

Molecular Neurodegeneration
Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that primarily affects the motor neurons, causing progressive muscle weakness and paralysis.
Natalie Grima, Andrew N. Smith, Claire E. Shepherd, Lyndal Henden, Thiri Zaw, Luke Carroll, Dominic B. Rowe, Matthew C. Kiernan, Ian P. Blair, Kelly L. Williams   +9 more
doaj   +1 more source

Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis

Frontiers in Immunology, 2021
The essential amino acid tryptophan (TRP) is the initiating metabolite of the kynurenine pathway (KP), which can be upregulated by inflammatory conditions in cells.
Jennifer A. Fifita, Sandrine Chan Moi Fat, Emily P. McCann, Kelly L. Williams, Natalie A. Twine, Natalie A. Twine, Denis C. Bauer, Denis C. Bauer, Denis C. Bauer, Dominic B. Rowe, Dominic B. Rowe, Roger Pamphlett, Roger Pamphlett, Roger Pamphlett, Matthew C. Kiernan, Matthew C. Kiernan, Vanessa X. Tan, Ian P. Blair, Gilles J. Guillemin   +18 more
doaj   +1 more source

From omics to AI—mapping the pathogenic pathways in type 2 diabetes

FEBS Letters, EarlyView.
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan, Lu Qi, Pierre Zalloua   +2 more
wiley   +1 more source

Elimination of glutamatergic transmission from Hb9 interneurons does not impact treadmill locomotion

Scientific Reports, 2021
The spinal cord contains neural circuits that can produce the rhythm and pattern of locomotor activity. It has previously been postulated that a population of glutamatergic neurons, termed Hb9 interneurons, contributes to locomotor rhythmogenesis.
Lina M. Koronfel, Kevin C. Kanning, Angelita Alcos, Christopher E. Henderson, Robert M. Brownstone   +4 more
doaj   +1 more source