Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

doi:10.1002/ana.24782

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Article

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

Annals of neurology - 1 Nov 2016

Verdura Edgard, Hervé Dominique, Bergametti Françoise, Jacquet Clémence, Morvan Typhaine, Prieto-Morin Carol, Mackowiak Alexandre, Manchon Eric, Hosseini Hassan, Cordonnier Charlotte, Girard-Buttaz Isabelle, Rosenstingl Sophie, Hagel Christian, Kuhlenbaümer Gregor, Leca-Radu Elena, Goux Didier, Fleming Lauren, Van Agtmael Tom, Chabriat Hugues, Chapon Françoise, Tournier-Lasserve Elisabeth

Abstract excerpt

OBJECTIVE: Cerebral small vessel disease (cSVD) is a heterogeneous group of disorders. Screening of known cSVD genes identifies the causative mutation in <15% of familial cSVD cases. We sought to identify novel causes of cSVD. METHODS: We used linkage analysis and exome sequencing to identify the causal mutation in a French cSVD family. The identified candidate gene was then screened in 202 cSVD unrelated...

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PMID: 27666438
DOI: 10.1002/ana.24782

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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