The CLN3 gene and protein: What we know
Abstract Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental understanding of the CLN3 gene, its...
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doaj-ff6be28e0b18473a86341a67a58383082020-11-25T01:20:43ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-12-01712n/an/a10.1002/mgg3.859The CLN3 gene and protein: What we knowMyriam Mirza0Anna Vainshtein1Alberto DiRonza2Uma Chandrachud3Luke J. Haslett4Michela Palmieri5Stephan Storch6Janos Groh7Niv Dobzinski8Gennaro Napolitano9Carolin Schmidtke10Danielle M. Kerkovich11Mila’s Miracle Foundation Boulder ColoradoCraft Science Inc. Thornhill CanadaBaylor College of Medicine Houston TexasCenter for Genomic Medicine Massachusetts General Hospital/Harvard Medical School Boston MassachusettsSchool of Biosciences Cardiff University Cardiff UKBaylor College of Medicine Houston TexasBiochemistry University Medical Center Hamburg‐Eppendorf Hamburg GermanyNeurology University Hospital Wuerzburg Wuerzburg GermanyBiochemistry and Biophysics UCSF School of Medicine San Francisco CaliforniaTelethon Institute of Genetics and Medicine Napoli ItalyBiochemistry University Medical Center Hamburg‐Eppendorf Hamburg GermanyBeyond Batten Disease Foundation Austin TexasAbstract Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental understanding of the CLN3 gene, its regulation, gene product, protein structure, tissue distribution, biomarker use, and pathological responses to its deficiency, lays the groundwork for determining therapeutic action plans. Objectives To present an unbiased comprehensive reference tool of the experimental understanding of the CLN3 gene and gene product of the same name. Methods BBDF compiled all of the available CLN3 gene and protein data from biological databases, repositories of federally and privately funded projects, patent and trademark offices, science and technology journals, industrial drug and pipeline reports as well as clinical trial reports and with painstaking precision, validated the information together with experts in Batten disease, lysosomal storage disease, lysosome/endosome biology. Results The finished product is an indexed review of the CLN3 gene and protein which is not limited in page size or number of references, references all available primary experiments, and does not draw conclusions for the reader. Conclusions Revisiting the experimental history of a target gene and its product ensures that inaccuracies and contradictions come to light, long‐held beliefs and assumptions continue to be challenged, and information that was previously deemed inconsequential gets a second look. Compiling the information into one manuscript with all appropriate primary references provides quick clues to which studies have been completed under which conditions and what information has been reported. This compendium does not seek to replace original articles or subtopic reviews but provides an historical roadmap to completed works.https://doi.org/10.1002/mgg3.859BattenCLN3JNCLjuvenile Battenneuronal ceroid lipofuscinosis |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Myriam Mirza Anna Vainshtein Alberto DiRonza Uma Chandrachud Luke J. Haslett Michela Palmieri Stephan Storch Janos Groh Niv Dobzinski Gennaro Napolitano Carolin Schmidtke Danielle M. Kerkovich |
spellingShingle |
Myriam Mirza Anna Vainshtein Alberto DiRonza Uma Chandrachud Luke J. Haslett Michela Palmieri Stephan Storch Janos Groh Niv Dobzinski Gennaro Napolitano Carolin Schmidtke Danielle M. Kerkovich The CLN3 gene and protein: What we know Molecular Genetics & Genomic Medicine Batten CLN3 JNCL juvenile Batten neuronal ceroid lipofuscinosis |
author_facet |
Myriam Mirza Anna Vainshtein Alberto DiRonza Uma Chandrachud Luke J. Haslett Michela Palmieri Stephan Storch Janos Groh Niv Dobzinski Gennaro Napolitano Carolin Schmidtke Danielle M. Kerkovich |
author_sort |
Myriam Mirza |
title |
The CLN3 gene and protein: What we know |
title_short |
The CLN3 gene and protein: What we know |
title_full |
The CLN3 gene and protein: What we know |
title_fullStr |
The CLN3 gene and protein: What we know |
title_full_unstemmed |
The CLN3 gene and protein: What we know |
title_sort |
cln3 gene and protein: what we know |
publisher |
Wiley |
series |
Molecular Genetics & Genomic Medicine |
issn |
2324-9269 |
publishDate |
2019-12-01 |
description |
Abstract Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental understanding of the CLN3 gene, its regulation, gene product, protein structure, tissue distribution, biomarker use, and pathological responses to its deficiency, lays the groundwork for determining therapeutic action plans. Objectives To present an unbiased comprehensive reference tool of the experimental understanding of the CLN3 gene and gene product of the same name. Methods BBDF compiled all of the available CLN3 gene and protein data from biological databases, repositories of federally and privately funded projects, patent and trademark offices, science and technology journals, industrial drug and pipeline reports as well as clinical trial reports and with painstaking precision, validated the information together with experts in Batten disease, lysosomal storage disease, lysosome/endosome biology. Results The finished product is an indexed review of the CLN3 gene and protein which is not limited in page size or number of references, references all available primary experiments, and does not draw conclusions for the reader. Conclusions Revisiting the experimental history of a target gene and its product ensures that inaccuracies and contradictions come to light, long‐held beliefs and assumptions continue to be challenged, and information that was previously deemed inconsequential gets a second look. Compiling the information into one manuscript with all appropriate primary references provides quick clues to which studies have been completed under which conditions and what information has been reported. This compendium does not seek to replace original articles or subtopic reviews but provides an historical roadmap to completed works. |
topic |
Batten CLN3 JNCL juvenile Batten neuronal ceroid lipofuscinosis |
url |
https://doi.org/10.1002/mgg3.859 |
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