An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
SR Chintalaphani, SS Pineda, IW Deveson… - Acta Neuropathologica …, 2021 - Springer
Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …
human neurological disease. They have an established role in more than 40 different …
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders
Long‐read sequencing (LRS) has been around for more than a decade, but widespread
adoption of the technology has been slow due to the perceived high error rates and high …
adoption of the technology has been slow due to the perceived high error rates and high …
Therapeutic reversal of Huntington's disease by in vivo self-assembled siRNAs
L Zhang, T Wu, Y Shan, G Li, X Ni, X Chen, X Hu, L Lin… - Brain, 2021 - academic.oup.com
Huntington's disease is an autosomal-dominant neurodegenerative disease caused by CAG
expansion in exon 1 of the huntingtin (HTT) gene. Since mutant huntingtin (mHTT) protein is …
expansion in exon 1 of the huntingtin (HTT) gene. Since mutant huntingtin (mHTT) protein is …
Chemical engineering of therapeutic siRNAs for allele-specific gene silencing in Huntington's disease models
Small interfering RNAs are a new class of drugs, exhibiting sequence-driven, potent, and
sustained silencing of gene expression in vivo. We recently demonstrated that siRNA …
sustained silencing of gene expression in vivo. We recently demonstrated that siRNA …
Innovative therapeutic approaches for Huntington's disease: From nucleic acids to GPCR-targeting small molecules
H Komatsu - Frontiers in Cellular Neuroscience, 2021 - frontiersin.org
Huntington's disease (HD) is a fatal neurodegenerative disorder due to an extraordinarily
expanded CAG repeat in the huntingtin gene that confers a gain-of-toxic function in the …
expanded CAG repeat in the huntingtin gene that confers a gain-of-toxic function in the …
Uncovering essential tremor genetics: The promise of long-read sequencing
Long-read sequencing (LRS) technologies have been recently introduced to overcome
intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely …
intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely …
Cyclodextrin-Based Nanoparticles for Delivery of Antisense Oligonucleotides Targeting Huntingtin
Huntington's disease (HD) is a progressive inherited neurodegenerative disease caused by
a CAG repeat expansion in the huntingtin gene, which is translated into the pathologic …
a CAG repeat expansion in the huntingtin gene, which is translated into the pathologic …
Application of antisense oligonucleotide drugs in amyotrophic lateral sclerosis and Huntington's disease
K Ou, Q Jia, D Li, S Li, XJ Li, P Yin - Translational Neurodegeneration, 2025 - Springer
Amyotrophic lateral sclerosis (ALS) and Huntington's disease (HD) are diverse in clinical
presentation and are caused by complex and multiple factors, including genetic mutations …
presentation and are caused by complex and multiple factors, including genetic mutations …
Immunotherapy for Neurodegenerative Movement Disorders
RL Mosley, M Saleh, KE Olson - Neuroimmune Pharmacology and …, 2024 - Springer
Neurodegenerative movement disorders represent a growing global health challenge. The
most notable of these include amyotrophic lateral sclerosis (ALS), Huntington's disease …
most notable of these include amyotrophic lateral sclerosis (ALS), Huntington's disease …
Full-length transcript phasing with third-generation sequencing
N Svrzikapa, R Boyanapalli - Haploty**: Methods and Protocols, 2022 - Springer
Haploty** individual full-length transcripts can be important in diagnosis and treatment of
certain genetic diseases. One set of diseases, repeat expansions of simple tandem repeat …
certain genetic diseases. One set of diseases, repeat expansions of simple tandem repeat …