Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Authors:
Gardner E; Bailey M; Schulz A; Aristorena M; Miller N and 1 more

Journal:
Hum Mutat

Publication Year: 2019

DOI:
10.1002/humu.23860

PMCID:
PMC6851559

PMID:
31283065

Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
2/6
0.0% Transparent
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Evidence found in paper:

"CONFLICTS OF INTEREST A. Schulz has received personal fees from BioMarin Pharmaceutical Inc., outside of the submitted work. M. Aristorena has no conflicts of interest to declare. M. Bailey was an employee of BioMarin Pharmaceutical Inc. at the time of the study. N. Miller was an employee of BioMarin Pharmaceutical Inc. at the time of the study. Professor S. E. Mole receives financial support from BioMarin Pharmaceutical Inc. to maintain the NCL Mutation Database and acts as an advisor to BioMarin Pharmaceutical Inc. on mutations in TPP1."

Evidence found in paper:

"The authors would like to thank Thomas Reynolds, formerly of BioMarin Pharmaceutical Inc., for his contribution to data acquisition for this manuscript, and Johan T. den Dunnen of Leiden University Medical Center, for hosting the revised content in the Global Variome shared Leiden Open Variation Database (LOVD) at http://www.LOVD.nl/TPP1. This study was sponsored by BioMarin Pharmaceutical Inc. Medical writing assistance was provided by Samantha Forster of ProScribe—part of the Envision Pharma Group and was funded by BioMarin Pharmaceutical Inc. Envision Pharma's services complied with international guidelines for Good Publication Practice (GPP3)."

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Last Updated: Aug 05, 2025