Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

IS Rajan-Babu, E Dolzhenko, MA Eberle… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …

Functional implications of paralog genes in polyglutamine spinocerebellar ataxias

D Felício, TR du Mérac, A Amorim, S Martins - Human Genetics, 2023 - Springer
Polyglutamine (polyQ) spinocerebellar ataxias (SCAs) comprise a group of autosomal
dominant neurodegenerative disorders caused by (CAG/CAA) n expansions. The elongated …

Progressive degeneration in a new Drosophila model of spinocerebellar ataxia type 7

A Sujkowski, B Ranxhi, ZR Bangash, ZM Chbihi… - Scientific Reports, 2024 - nature.com
Abstract Spinocerebellar ataxia type 7 (SCA7) is a progressive neurodegenerative disorder
resulting from abnormal expansion of an uninterrupted polyglutamine (polyQ) repeat in its …

The 5HT4R agonist velusetrag efficacy on neuropathic chronic intestinal pseudo-obstruction in PrP-SCA7-92Q transgenic mice

Y Liu, Y Wu, D Ren, Y Tao, F Mai, J Zhu, X Li… - Frontiers in …, 2024 - frontiersin.org
Background Chronic intestinal pseudo-obstruction (CIPO) is a type of intestinal dysfunction
with symptoms of intestinal blockage but without the actual mechanical obstruction …

Genetic modeling of degenerative diseases and mechanisms of neuronal regeneration in the zebrafish cerebellum

K Namikawa, S Pose-Méndez, RW Köster - Cellular and Molecular Life …, 2024 - Springer
The cerebellum is a highly conserved brain compartment of vertebrates. Genetic diseases of
the human cerebellum often lead to degeneration of the principal neuron, the Purkinje cell …

[HTML][HTML] KAT tales: Functions of Gcn5 and PCAF lysine acetyltransferases in SAGA and ATAC

SYR Dent - Journal of Biological Chemistry, 2024 - Elsevier
Abstract The Allis group identified Gcn5 as the first transcription-related lysine
acetyltransferase in 1996, providing a molecular 'missing link'between chromatin …

Inflammation and olfactory loss are associated with at least 139 medical conditions

M Leon, ET Troscianko, CC Woo - Frontiers in Molecular …, 2024 - frontiersin.org
Olfactory loss accompanies at least 139 neurological, somatic, and congenital/hereditary
conditions. This observation leads to the question of whether these associations are …

The role of interferon beta in neurological diseases and its potential therapeutic relevance

M Farhangian, F Azarafrouz, N Valian… - European Journal of …, 2024 - Elsevier
Interferon beta (IFNβ) is a member of the type-1 interferon family and has various
immunomodulatory functions in neuropathological conditions. Although the level of IFNβ is …

Multi-omic insights into molecular mechanism and therapeutic targets in spinocerebellar ataxia type 7

SH Ahn, Y Jang, BS Jang, J Moon, WJ Lee… - … Therapy Nucleic Acids, 2025 - cell.com
Recent advances in molecular science have significantly enlightened our mechanistic
understanding of spinocerebellar ataxia type 7. To further close remaining gaps, we …

Viral-based animal models in polyglutamine disorders

C Henriques, MM Lopes, AC Silva, DD Lobo, RA Badin… - Brain, 2024 - academic.oup.com
Polyglutamine disorders are a complex group of incurable neurodegenerative disorders
caused by an abnormal expansion in the trinucleotide cytosine-adenine-guanine tract of the …