The emerging role of minor intron splicing in neurological disorders

Affiliations:

¹ Department of Chemistry and Biochemistry, University of Bern, CH-3012 Bern, Switzerland.

² Graduate School for Cellular and Biomedical Sciences, University of Bern, CH-3012 Bern, Switzerland.

³ Institute of Biotechnology, University of Helsinki, FI-00014, Finland.

⁴ United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, SE5 9NU London, UK.

⁺ These authors contributed equally to the work.

Keywords: 

minor spliceosome, pre-mRNA splicing, neurodegeneration, ALS, SMA, FUS, TDP-43.

Abbreviations:

3’ss – 3’ splice site,

5’ss – 5’ splice site,

ALS – Amyotrophic Lateral Sclerosis,

BPS – branch point sequence,

EOCA – Early Onset Cerebellar Atrophy,

fALS – familial ALS,

FTD – frontotemporal dementia,

GEM – Gemini of Cajal bodies

IGHD – Isolated Growth Hormone Deficiency,

LMN – lower motor neuron,

LWS – Lowry Wood Syndrome,

MODPD1/TALS – Microcephalic Osteodysplastic Primordial Dwarfism type 1 / Taybi-Linder syndrome,

RFMN – Roifman syndrome,

sALS – sporadic ALS,

SMA – Spinal Muscular Atrophy,

snRNA – small nuclear RNA,

snRNP – small nuclear ribonucleoprotein,

UMN – upper motor neuron.

Corresponding Author(s):

Conflict of interest statement:

The authors declare no conflict of interest.

Please cite this article as:

Daniel Jutzi, Maureen V. Akinyi, Jonas Mechtersheimer, Mikko J. Frilander and Marc-David Ruepp (2018). The emerging role of minor intron splicing in neurological disorders. Cell Stress 2(3): 40-54. doi: 10.15698/cst2018.03.126

© 2018 Jutzi et al. This is an open-access article released under the terms of the Creative Commons Attribution (CC BY) license, which allows the unrestricted use, distribution, and reproduction in any medium, provided the original author and source are acknowledged.