Results 41 to 50 of about 164,738 (314)

SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs

Cell Reports, 2013
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein. SMN mediates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) and possibly other RNPs.
Sarah Tisdale, Francesco Lotti, Luciano Saieva, James P. Van Meerbeke, Thomas O. Crawford, Charlotte J. Sumner, George Z. Mentis, Livio Pellizzoni   +7 more
doaj   +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, Virginia Le Verche, Arnaud Jacquier, Burcin Ikiz, Serge Przedborski, Diane B. Re   +5 more
doaj   +1 more source

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

Nature Communications, 2016
The mechanism by which FUS mutations cause familial ALS remains unclear. Here, the authors use mouse transgenic models to show that a toxic gain-of-function underlies motor neuron degeneration, and that the toxicity of mutant FUS does not depend on a ...
Aarti Sharma, Alexander K. Lyashchenko, Lei Lu, Sara Ebrahimi Nasrabady, Margot Elmaleh, Monica Mendelsohn, Adriana Nemes, Juan Carlos Tapia, George Z. Mentis, Neil A. Shneider   +9 more
doaj   +1 more source

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, Hannah R. Crick, Helena Chaytow, Dinja van der Hoorn, Abrar Alhindi, Ross A. Jones, Ralph D. Hector, Stuart R. Cobb, Thomas H. Gillingwater   +8 more
doaj   +1 more source

Decoding the molecular mechanism underpinning motor neuron degeneration in ALS

, 2023
reservedMotor neuron degeneration is one of the main feature of different neuromuscular diseases, including Amyotrophic Lateral Sclerosis (ALS). The molecular mechanism underpinning motor neuron degeneration has not been well understood yet, hampering ...
SARTORE, LUIGI
core  

A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice [PDF]

, 2005
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative condition characterized by motoneuron degeneration and muscle paralysis. Although the precise pathogenesis of ALS remains unclear, mutations in Cu/Zn superoxide dismutase (SOD1) account for
Dairin Kieran, Martin, J, Joanne Martin, Schiavo, G, Giampietro Schiavo (107907), Dick, JRT, Greensmith, L., Joanne Martin (11260388), Bohnert, S, Hafezparast, M., Elizabeth M.C. Fisher, Fisher, EMC, Linda Greensmith, Stephanie Bohnert (16066082), Martin, J., Majid Hafezparast (4461484), Fisher, E.M.C., James R T Dick (16066085), Majid Hafezparast, Greensmith, L, Linda Greensmith (252146), Giampietro Schiavo, Kieran, D., Bohnert, S., Stephanie Bohnert, James R.T. Dick, Dairin Kieran (7953794), Dick, J.R.T., Kieran, D, Hafezparast, M, Schiavo, G., Elizabeth M C Fisher (16062626)   +31 more
core   +1 more source

Clinical and Biological Features of Response in Resistant Neuroblastoma to 131I‐Metaiodobenzylguanidine Radiotherapy in the Anti‐GD2 Immunotherapy Era

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman, Katherine K. Matthay, Fabienne Hollinger, Catriona Black, Ann A. Lazar, Miguel Pampaloni, Steven G. DuBois, Kieuhoa T. Vo   +7 more
wiley   +1 more source

Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism

Acta Neuropathologica Communications
Dysregulation of the TAR DNA-binding protein 43 (TDP-43), including intraneuronal cytoplasmic mislocalisation and aggregation is a feature of multiple neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia
Alison L. Hogan, Madison Kane, Patrick Chiu, Grant Richter, Cindy Maurel, Sharlynn Wu, Natalie M. Scherer, Emily K. Don, Albert Lee, Ian P. Blair, Roger S. Chung, Marco Morsch   +11 more
doaj   +1 more source

Systematic assessment of the mouse TATA-box binding protein-associated factor 1 locus reveals novel messenger RNA isoforms and differential protein distribution across brain regions [PDF]

Royal Society Open Science
TATA-box binding protein-associated factor 1 (TAF1) is the largest component of transcription factor IID, a fundamental multi-protein complex for RNA polymerase II-mediated transcription.
Peihang Li, Karen Cleverley, Elisa M. Crombie, Jan Bieschke, Elizabeth M. C. Fisher, Anna-Leigh Brown   +5 more
doaj   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source