HD and SCA1: Tales from two 30-year journeys since gene discovery

LM Thompson, HT Orr - Neuron, 2023 - cell.com
One of the more transformative findings in human genetics was the discovery that the
expansion of unstable nucleotide repeats underlies a group of inherited neurological …

[HTML][HTML] Rodent Models of Huntington's Disease: An Overview

G Nittari, P Roy, I Martinelli, V Bellitto, D Tomassoni… - Biomedicines, 2023 - mdpi.com
Huntington's disease (HD) is an autosomal-dominant inherited neurological disorder caused
by a genetic mutation in the IT15 gene. This neurodegenerative disorder is caused by a …

[HTML][HTML] The role of voltage-gated calcium channels in basal ganglia neurodegenerative disorders

BHM Correa, CR Moreira, ME Hildebrand… - Current …, 2023 - ncbi.nlm.nih.gov
Abstract Calcium (Ca 2+) plays a central role in regulating many cellular processes and
influences cell survival. Several mechanisms can disrupt Ca 2+ homeostasis to trigger cell …

Variant RNAi

LM Stanek, A Palermo, B Richards, SP Sardi… - US Patent …, 2023 - Google Patents
Provided herein are RNAi molecules including a first strand containing a guide sequence
and a second strand comprising a non-guide sequence where the non-guide sequence …

Variant RNAi

CR O'riordan, A Palermo, B Richards… - US Patent …, 2023 - Google Patents
2020-06-22 Assigned to GENZYME CORPORATION reassignment GENZYME
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