Results 91 to 100 of about 247,506 (355)
Differentiating lower motor neuron syndromes [PDF]
, 2017 Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal
Cornblath, DR +12 more
core
TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals [PDF]
, 2012 Antisense oligonucleotides (ASOs) are versatile molecules that can be designed to specifically alter splicing patterns of target pre-mRNAs. Here we exploit this feature to phenocopy a genetic disease.
Bennett, C. F. +10 more
core +1 more source
Current trends in single‐cell RNA sequencing applications in diabetes mellitus
FEBS Open Bio, EarlyView.Single‐cell RNA sequencing is a powerful approach to decipher the cellular and molecular landscape at a single‐cell resolution. The rapid development of this technology has led to a wide range of applications, including the detection of cellular and molecular mechanisms and the identification and introduction of novel potential diagnostic and ...
Seyed Sajjad Zadian +6 more
wiley +1 more source
Redox Biology, 2018 Generation of reactive oxygen species (ROS) has been shown to be important for many physiological processes, ranging from cell differentiation to apoptosis. With the development of the genetically encoded photosensitiser KillerRed (KR) it is now possible
Isabel Formella +8 more
doaj
Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7
Molecular Therapy: Nucleic Acids, 2023 Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital myasthenic syndromes (CMSs) and motor neuron disease (MND).
Yu-Ting Huang +8 more
doaj
Matrix: a complex amalgam of structures and functions in tumor microenvironment
FEBS Open Bio, EarlyView.The matrix is a dynamic, intricate three‐dimensional mesh of biomolecules with both structural and functional properties. This review deals with the complexity of this ‘molecular amalgam’ in the tumor microenvironment and highlights its importance in the maintenance and evolution of tumors by describing certain matrix biomolecules, such as ...
Spyros S. Skandalis +3 more
wiley +1 more source
Decreased function of survival motor neuron protein impairs endocytic pathways [PDF]
, 2016 This document is the Accepted Manuscript version. The final, definitive version is available online at https://doi.org/10.1073/pnas.1600015113.Spinal muscular atrophy (SMA) is caused by depletion of the ubiquitously expressed survival motor neuron (SMN ...
Aaron Derdowski +16 more
core +2 more sources
Liver‐specific lncRNAs associated with liver cancers
FEBS Open Bio, EarlyView.Long non‐coding RNAs (lncRNAs) are regulatory molecules with various functions. They are more tissue‐specific than proteins and can be used as potential biomarkers, particularly in cancer diagnostics and prognosis. In this review, we have systematically compiled all lncRNAs with exclusive expression in the human liver, verified their liver specificity ...
Olga Y. Burenina +3 more
wiley +1 more source
Inflammation in ALS and SMA: Sorting out the good from the evil
Neurobiology of Disease, 2010 Indices of neuroinflammation are found in a variety of diseases of the CNS including amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).
Dimitra Papadimitriou +5 more
doaj
The role of D-serine and glycine as co-agonists of NMDA receptors in motor neuron degeneration and amyotrophic lateral sclerosis (ALS). [PDF]
, 2014 The fundamental role of D-serine as a co-agonist at the N-methyl-D-aspartate receptor (NMDAR), mediating both physiological actions of glutamate in long term potentiation and nociception and also pathological effects mediated by excitotoxicty, are well ...
de Belleroche, J, Paul, P
core +2 more sources