Zebrafish: an emerging real-time model system to study Alzheimer's disease and neurospecific drug discovery

S Saleem, RR Kannan - Cell death discovery, 2018 - nature.com
Zebrafish (Danio rerio) is emerging as an increasingly successful model for translational
research on human neurological disorders. In this review, we appraise the high degree of …

The role of survival motor neuron protein (SMN) in protein homeostasis

H Chaytow, YT Huang, TH Gillingwater… - Cellular and Molecular …, 2018 - Springer
Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …

Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis

M Riessland, A Kaczmarek, S Schneider… - The American Journal of …, 2017 - cell.com
Homozygous SMN1 loss causes spinal muscular atrophy (SMA), the most common lethal
genetic childhood motor neuron disease. SMN1 encodes SMN, a ubiquitous housekeeping …

[HTML][HTML] Zebrafish models of human motor neuron diseases: advantages and limitations

PJ Babin, C Goizet, D Raldúa - Progress in neurobiology, 2014 - Elsevier
Motor neuron diseases (MNDs) are an etiologically heterogeneous group of disorders of
neurodegenerative origin, which result in degeneration of lower (LMNs) and/or upper motor …

Disease mechanisms and therapeutic approaches in spinal muscular atrophy

S Tisdale, L Pellizzoni - Journal of Neuroscience, 2015 - Soc Neuroscience
Motor neuron diseases are neurological disorders characterized primarily by the
degeneration of spinal motor neurons, skeletal muscle atrophy, and debilitating and often …

Single-cell mRNA profiling reveals cell-type-specific expression of neurexin isoforms

MV Fuccillo, C Földy, Ö Gökce, PE Rothwell, GL Sun… - Neuron, 2015 - cell.com
Neurexins are considered central organizers of synapse architecture that are implicated in
neuropsychiatric disorders. Expression of neurexins in hundreds of alternatively spliced …

The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype

S Hosseinibarkooie, M Peters, L Torres-Benito… - The American Journal of …, 2016 - cell.com
Homozygous loss of SMN1 causes spinal muscular atrophy (SMA), the most common and
devastating childhood genetic motor-neuron disease. The copy gene SMN2 produces …

SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease

DK Li, S Tisdale, F Lotti, L Pellizzoni - Seminars in cell & developmental …, 2014 - Elsevier
At the post-transcriptional level, expression of protein-coding genes is controlled by a series
of RNA regulatory events including nuclear processing of primary transcripts, transport of …

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

TK Doktor, Y Hua, HS Andersen, S Brøner… - Nucleic acids …, 2017 - academic.oup.com
Abstract Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by insufficient
levels of the Survival of Motor Neuron (SMN) protein. SMN is expressed ubiquitously and …

Mitochondrial dysfunction in spinal muscular atrophy

E Zilio, V Piano, B Wirth - International Journal of Molecular Sciences, 2022 - mdpi.com
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by
recessive mutations in the SMN1 gene, globally affecting~ 8–14 newborns per 100,000. The …