Results 101 to 110 of about 160,996 (342)

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

Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing [PDF]

, 2014
Aprataxin (APTX) deficiency causes progressive cerebellar degeneration, ataxia and oculomotor apraxia in man. Cell free assays and crystal structure studies demonstrate a role for APTX in resolving 5'-adenylated nucleic acid breaks, however, APTX ...
Bode, David, Carroll, Jean, Chiang, Shih-Chieh, El-Khamisy, Sherif F, Greensmith, Linda, Hafezparast, Majid, Kalmar, Bernadett, Mckinnon, Peter J, Page, Tristan K W, Thorpe, Julian R   +9 more
core   +1 more source

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons [PDF]

Scientific Reports, 2015
AbstractSpinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations inSurvival Motor Neuron 1(SMN1), leading to degeneration of alpha motor neurons (MNs) but also affecting other cell types. Induced pluripotent stem cell (iPSC)-derived human MN models from severe SMA patients have shown relevant phenotypes.
Boza-Morán, María G., Martínez-Hernández, Rebeca, Bernal, Sara||, Wanisch, Klaus, Also-Rallo, Eva, Le Heron, Anita, Alías, Laura||, Denis, Cécile, Girard, Mathilde, Yee, Jiing-Kuan, Tizzano, Eduardo F.||, Yáñez-Muñoz, Rafael J||   +11 more
openaire   +4 more sources

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

Identification of pathways of degeneration and protection in motor neuron diseases [PDF]

, 2017
Motor neuron diseases preferentially affect specific neuronal populations with distinct clinical features even if disease-causing genes are expressed in many cell types. In spinal muscular atrophy (SMA), somatic motor neurons are selectively vulnerable
Nichterwitz, Susanne
core   +1 more source

Naked cuticle is essential for Drosophila wing development beyond Wingless signaling

FEBS Open Bio, EarlyView.
Naked cuticle (Nkd), a Wnt signaling inhibitor, assumes extensive roles in Drosophila wing development. Overexpressing Nkd causes smaller, crumpled wings, while also perturbing multiple signaling pathways and developmental genes. A specific region (R1S) is critical for Nkd's function as a signaling integrator, offering new insights for studying its ...
Rui Wang, Ping Wang
wiley   +1 more source

Protective effects of heat shock protein 27 in a model of ALS occur in the early stages of disease progression

Neurobiology of Disease, 2008
Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disorder, characterised by progressive motor neuron degeneration and muscle paralysis.
Paul S. Sharp, Mohammed T. Akbar, Sonia Bouri, Atsushi Senda, Kieran Joshi, Han-Jou Chen, David S. Latchman, Dominic J. Wells, Jacqueline de Belleroche   +8 more
doaj   +1 more source

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

KLK7 overexpression promotes an aggressive phenotype and facilitates peritoneal dissemination in colorectal cancer cells

FEBS Open Bio, EarlyView.
KLK7, a tissue kallikrein‐related peptidase, is elevated in advanced colorectal cancer and associated with shorter survival. High KLK7 levels in ascites correlate with peritoneal metastasis. In mice, KLK7 overexpression increases metastasis. In vitro, KLK7 enhances cancer cell proliferation, migration, adhesion, and spheroid formation, driving ...
Yosr Z. Haffani, Tobias Dreyer, Meriem Naim, Rea Lo Dico, Natalia A. Ignatenko, Viktor Magdolen, Dalila Darmoul   +6 more
wiley   +1 more source

Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy

Disease Models & Mechanisms, 2016
Spinal muscular atrophy (SMA), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival of motor neuron 1, telomeric (SMN1) gene and subsequent decreased levels of functional SMN. How the deficiency of SMN, a
Chong-Chong Xu, Kyle R. Denton, Zhi-Bo Wang, Xiaoqing Zhang, Xue-Jun Li   +4 more
doaj   +1 more source