NAT8L, N-acetyltransferase 8 like, 339983

N. diseases: 32; N. variants: 0
Disease: Canavan Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.010 Biomarker disease BEFREE We now report that brain Nat8l knockdown elicited by intracerebroventricular/intracisternal administration of an adeno-associated viral vector carrying a short hairpin Nat8l inhibitory RNA to neonatal aspartoacylase-deficient Aspa<sup>Nur7/Nur7</sup> mice lowers [NAA<sub>B</sub>] and suppresses development of spongiform leukodystrophy. 29456021 2018