Literature DB >> 25857620

Future perspectives: Moving towards NCL treatments.

Susan L Cotman1, Sara E Mole2, Romina Kohan3.   

Abstract

Clinicians, basic researchers, representatives from pharma and families from around the world met in Cordoba, Argentina in October, 2014 to discuss recent research progress at the 14th International Congress on Neuronal Ceroid Lipofuscinoses (NCLs; Batten disease), a group of clinically overlapping fatal, inherited lysosomal disorders with primarily neurodegenerative symptoms. This brief review article will provide perspectives on the anticipated future directions of NCL basic and clinical research as we move towards improved diagnosis, care and treatment of NCL patients. This article is part of a Special Issue entitled: Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease).
Copyright © 2015 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Batten disease; Neuronal Ceroid Lipofuscinosis (NCL)

Year:  2015        PMID： 25857620      PMCID： PMC4567439          DOI： 10.1016/j.bbadis.2015.04.001

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


  20 in total

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Authors:  Shinya Yamanaka; Kazutoshi Takahashi
Journal:  Tanpakushitsu Kakusan Koso       Date:  2006-12

2.  Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).

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Journal:  Neurology       Date:  2011-10-19       Impact factor: 9.910

3.  A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

Authors:  John F Staropoli; Amel Karaa; Elaine T Lim; Andrew Kirby; Naser Elbalalesy; Stephen G Romansky; Karen B Leydiker; Scott H Coppel; Rosemary Barone; Winnie Xin; Marcy E MacDonald; Jose E Abdenur; Mark J Daly; Katherine B Sims; Susan L Cotman
Journal:  Am J Hum Genet       Date:  2012-06-28       Impact factor: 11.025

4.  Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Authors:  Katherine R Smith; John Damiano; Silvana Franceschetti; Stirling Carpenter; Laura Canafoglia; Michela Morbin; Giacomina Rossi; Davide Pareyson; Sara E Mole; John F Staropoli; Katherine B Sims; Jada Lewis; Wen-Lang Lin; Dennis W Dickson; Hans-Henrik Dahl; Melanie Bahlo; Samuel F Berkovic
Journal:  Am J Hum Genet       Date:  2012-05-17       Impact factor: 11.025

5.  Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.

Authors:  Erika F Augustine; Heather R Adams; Christopher A Beck; Amy Vierhile; Jennifer Kwon; Paul G Rothberg; Frederick Marshall; Robert Block; James Dolan; Jonathan W Mink
Journal:  Dev Med Child Neurol       Date:  2014-11-11       Impact factor: 5.449

6.  Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis.

Authors:  Marco A Passini; James C Dodge; Jie Bu; Wendy Yang; Qi Zhao; Dolan Sondhi; Neil R Hackett; Stephen M Kaminsky; Qinwen Mao; Lamya S Shihabuddin; Seng H Cheng; David E Sleat; Gregory R Stewart; Beverly L Davidson; Peter Lobel; Ronald G Crystal
Journal:  J Neurosci       Date:  2006-02-01       Impact factor: 6.167

7.  Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA.

Authors:  Stefan Worgall; Dolan Sondhi; Neil R Hackett; Barry Kosofsky; Minal V Kekatpure; Nurunisa Neyzi; Jonathan P Dyke; Douglas Ballon; Linda Heier; Bruce M Greenwald; Paul Christos; Madhu Mazumdar; Mark M Souweidane; Michael G Kaplitt; Ronald G Crystal
Journal:  Hum Gene Ther       Date:  2008-05       Impact factor: 5.695

8.  Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis.

Authors:  Dolan Sondhi; Daniel A Peterson; Andrew M Edelstein; Katrina del Fierro; Neil R Hackett; Ronald G Crystal
Journal:  Exp Neurol       Date:  2008-04-30       Impact factor: 5.330

9.  Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.

Authors:  J Vesa; E Hellsten; L A Verkruyse; L A Camp; J Rapola; P Santavuori; S L Hofmann; L Peltonen
Journal:  Nature       Date:  1995-08-17       Impact factor: 49.962

10.  Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Authors:  Jose Bras; Alain Verloes; Susanne A Schneider; Sara E Mole; Rita J Guerreiro
Journal:  Hum Mol Genet       Date:  2012-03-02       Impact factor: 6.150
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  3 in total

Review 1.  Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders.

Authors:  Kyeongsoon Kim; Hynda K Kleinman; Hahn-Jun Lee; Kalipada Pahan
Journal:  Orphanet J Rare Dis       Date:  2017-06-17       Impact factor: 4.123

Review 2.  Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses.

Authors:  Anil B Mukherjee; Abhilash P Appu; Tamal Sadhukhan; Sydney Casey; Avisek Mondal; Zhongjian Zhang; Maria B Bagh
Journal:  Mol Neurodegener       Date:  2019-01-16       Impact factor: 14.195

3.  Searching for novel biomarkers using a mouse model of CLN3-Batten disease.

Authors:  Derek Timm; Jacob T Cain; Ryan D Geraets; Katherine A White; Seung Yon Koh; Tammy Kielian; David A Pearce; Michelle L Hastings; Jill M Weimer
Journal:  PLoS One       Date:  2018-08-07       Impact factor: 3.240
  3 in total

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