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Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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
Recent advances in molecular science have significantly enlightened our mechanistic
understanding of spinocerebellar ataxia type 7. To further close remaining gaps, we …
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 …
caused by an abnormal expansion in the trinucleotide cytosine-adenine-guanine tract of the …