Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
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DOI: 10.1212/nxg.0000000000000288
Abstract: Transmembrane protein 106B (TMEM106B; NM_001134232) was recently identified as a gene responsible for a form of hypomyelinating leukodystrophy (HLD).1,2 All 5 cases identified to date carry the identical c.754 G > A, (p.Asp252Asn) mutation.1,2 Although… read more here.
Keywords: hypomyelinating leukodystrophy; dysfunction tmem106b; tmem106b; biology ... See more keywords