Recent insights into the structure, function, and regulation of the eukaryotic transfer RNA splicing endonuclease complex

CK Hayne, TA Lewis, RE Stanley - Wiley Interdisciplinary …, 2022 - Wiley Online Library
The splicing of transfer RNA (tRNA) introns is a critical step of tRNA maturation, for intron‐
containing tRNAs. In eukaryotes, tRNA splicing is a multi‐step process that relies on several …

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

V Cocostîrc, AI Paștiu, DL Pusta - Animals, 2023 - mdpi.com
Simple Summary This review explores various inherited neurological conditions found in
dogs, which can be present from birth or develop later in life. Researchers use two main …

The intronic branch point sequence is under strong evolutionary constraint in the bovine and human genome

NK Kadri, XM Mapel, H Pausch - Communications biology, 2021 - nature.com
The branch point sequence is a cis-acting intronic motif required for mRNA splicing. Despite
their functional importance, branch point sequences are not routinely annotated. Here we …

Comprehensive identification of RNA transcripts and construction of RNA network in chronic obstructive pulmonary disease

P Liu, Y Wang, N Zhang, X Zhao, R Li, Y Wang… - Respiratory …, 2022 - Springer
Background Chronic obstructive pulmonary disease (COPD) is one of the world's leading
causes of death and a major chronic disease, highly prevalent in the aging population …

Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia

S Sekulovski, P Devant, S Panizza, T Gogakos… - Nature …, 2021 - nature.com
Introns of human transfer RNA precursors (pre-tRNAs) are excised by the tRNA splicing
endonuclease TSEN in complex with the RNA kinase CLP1. Mutations in TSEN/CLP1 occur …

Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences

T Kagermeier, S Hauser, K Sarieva… - Disease models & …, 2024 - journals.biologists.com
Pontocerebellar hypoplasia type 2a (PCH2a) is an ultra-rare, autosomal recessive pediatric
disorder with limited treatment options. Its anatomical hallmark is hypoplasia of the …

A hypomyelinating leukodystrophy in German Shepherd dogs

PR Quitt, A Brühschwein, K Matiasek… - Journal of veterinary …, 2021 - Wiley Online Library
Background Shaking puppy syndrome is commonly attributed to abnormal myelination of the
central nervous system. Hypothesis/Objectives To report the long‐term clinical course and …

Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies

R De Miguel, DW Hague, JL Johnson… - Journal of veterinary …, 2024 - Wiley Online Library
Two 9‐week‐old female littermate German Shepherd puppies showed severe high‐
frequency low‐amplitude trembling that worsened with movement. The white matter (WM) of …

Case report: MRI, clinical, and pathological correlates of bromethalin toxicosis in three dogs

VD Murthy, E McLarty, KD Woolard… - Frontiers in Veterinary …, 2022 - frontiersin.org
Bromethalin toxicosis is an increasingly common clinical presentation in dogs that may be
fatal depending on the extent of intoxication. Antemortem diagnosis of bromethalin toxicosis …

Human organoid model of PCH2a recapitulates brain region-specific pathology

T Kagermeier, S Hauser, K Sarieva, L Laugwitz… - bioRxiv, 2022 - biorxiv.org
Pontocerebellar hypoplasia type 2 a (PCH2a) is a rare, autosomal recessive neurogenetic
disorder. Affected individuals present with early and severe neurological impairment. The …