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Article

AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 Sept 2005

Griffey Megan, Macauley Shannon L, Ogilvie Judith M, Sands Mark S

Abstract excerpt

Infantile neuronal ceroid lipofuscinosis (INCL) is a neurodegenerative disorder caused by mutations in the gene encoding the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1). The earliest clinical sign in INCL is blindness, followed by seizures, cognitive deficits, and early death. Little is known about the progression of the visual deficits in INCL. Here we characterize the progressive retinal...

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Source

Identifiers

PMID: 15979943
DOI: 10.1016/j.ymthe.2005.04.018

Genes

PPT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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