Article

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

2023-08-07

Abstract excerpt

The role of non-coding regulatory elements and how they might contribute to tissue type specificity of disease phenotypes is poorly understood. Autosomal Dominant Leukodystrophy (ADLD) is a fatal, adult-onset, neurological disorder that is characterized by extensive CNS demyelination. Most cases of ADLD are caused by tandem genomic duplications involving the lamin B1 gene ( LMNB1 ) while a small subset are caused...

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Literature Corpus work: 1b9dcdf1-5daa-5636-ba0c-9a9fc515d347
DOI: 10.1101/2023.08.03.551473

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