Publications by authors named "Erin A Barinaga"

Article Synopsis
  • Latin America's genetic diversity offers a unique opportunity to study Alzheimer's disease (AD) and frontotemporal dementia (FTD), with a focus on identifying related genetic variations.
  • The study involved 2,162 participants from six countries who underwent extensive genomic sequencing and analysis to detect genetic factors linked to these dementias.
  • Results highlighted a mix of American, African, and European ancestries, discovered 17 pathogenic variants, and revealed specific genetic variations tied to AD and FTD inheritance patterns in affected families.
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Tauopathies are a group of neurodegenerative diseases defined by abnormal aggregates of tau, a microtubule-associated protein encoded by MAPT. MAPT expression is near absent in neural progenitor cells (NPCs) and increases during differentiation. This temporally dynamic expression pattern suggests that MAPT expression could be controlled by transcription factors and cis-regulatory elements specific to differentiated cell types.

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Background: Tauopathies are a group of neurodegenerative diseases driven by abnormal aggregates of tau, a microtubule associated protein encoded by the gene. expression is absent in neural progenitor cells (NPCs) and increases during differentiation. This temporally dynamic expression pattern suggests that expression is controlled by transcription factors and cis-regulatory elements specific to differentiated cell types.

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