Saturday, December 21, 2024

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Understanding the cascade of molecular events leading to Rett syndrome
The need for language inclusivity in clinical research
Caring for your feet with a diabetes diagnosis
Mapping functional relations among proteins and genes helps illuminate their role in cancer
Occupational therapy: what patients need to know

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SCA1

From The Labs

Ataxia mutant protein uses distinct partners to drive toxicity in different brain cells

January 24, 2023 attaxia, ATXN1, capicua, neurodegenerative disorders, Research, SCA1

This study proposes a mechanism for the differential vulnerability of brain cells and regions to toxic mutant proteins.

From The Labs

Regulating gene regulatory regions offers a novel mechanism to control ATXN1 levels

August 27, 2020 ataxia, ATXN1, balance problems, gene regulation, microRNA, movement problems, Research, SCA1

Researchers identified a novel mechanism that regulates ATXN1 levels and reduces SCA1 symptoms in animal model.

From The Labs

Ataxin-1: One gene, two different neurodegenerative diseases

September 5, 2019 Alzheimer's Disease, amyloid beta peptide, Ataxin-1, BACE1, Research, SCA1

Certain variants of the ataxin-1 gene cause a rare neurodegenerative disease called spinocerebellar ataxia type 1 (SCA1). Years ago, the lab of Dr. Huda Zoghbi

From The Labs

When protein regulators go awry, neurological disease may follow

April 19, 2018 Alzheimer's Disease, Ataxin1, Mouse models, neurological disease, PUMILIO1, Research, SCA1

Scientists are expanding their horizons in their search for disease-causing genes. Consider for instance a neurological condition called spinocerebellar ataxia type 1 (SCA1), a disease

From the Labs: Humans are complex genetic mosaics.