Literature DB >> 11589005

Neuronal ceroid lipofuscinosis in Australian Merino sheep: a new animal model.

I Tammen1, R W Cook, F W Nicholas, H W Raadsma.   

Abstract

In 1997, neuronal ceroid lipofuscinosis (NCL) was identified for the first time in Merino sheep in Australia. A homozygosity mapping approach localized the disease gene in Merino sheep to the same region on chromosome 7 in which NCL was recently mapped in South Hampshire sheep. This region shows conserved synteny with the region on human chromosome 15 in which the human late infantile NCL variant CLN6 was mapped. NCL in Merino and South Hampshire sheep are therefore potential animal models for the human late infantile variant CLN6.

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Year:  2001        PMID: 11589005     DOI: 10.1053/ejpn.2000.0432

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN: 1090-3798            Impact factor:   3.140


  11 in total

1.  The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

Authors:  Ruth B Wheeler; Julie D Sharp; Roger A Schultz; John M Joslin; Ruth E Williams; Sara E Mole
Journal:  Am J Hum Genet       Date:  2001-11-27       Impact factor: 11.025

2.  A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes.

Authors:  Vicki J Swier; Katherine A White; Tyler B Johnson; Jessica C Sieren; Hans J Johnson; Kevin Knoernschild; Xiaojun Wang; Frank A Rohret; Christopher S Rogers; David A Pearce; Jon J Brudvig; Jill M Weimer
Journal:  Neurotherapeutics       Date:  2022-09-13       Impact factor: 6.088

3.  Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2.

Authors:  Jared W Benedict; Amanda L Getty; Thomas M Wishart; Thomas H Gillingwater; David A Pearce
Journal:  J Neurosci Res       Date:  2009-07       Impact factor: 4.164

4.  Manifestation of neuronal ceroid lipofuscinosis in Australian Merino sheep: observations on altered behaviour and growth.

Authors:  Greg M Cronin; Danai F Beganovic; Amanda L Sutton; DavidJ Palmer; Peter C Thomson; Imke Tammen
Journal:  Appl Anim Behav Sci       Date:  2016-02-01       Impact factor: 2.448

5.  Advances in the Treatment of Neuronal Ceroid Lipofuscinosis.

Authors:  Jonathan B Rosenberg; Alvin Chen; Stephen M Kaminsky; Ronald G Crystal; Dolan Sondhi
Journal:  Expert Opin Orphan Drugs       Date:  2019-11-27       Impact factor: 0.694

Review 6.  The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.

Authors:  Jill M Weimer; Elizabeth Kriscenski-Perry; Yasser Elshatory; David A Pearce
Journal:  Neuromolecular Med       Date:  2002       Impact factor: 4.103

7.  CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease).

Authors:  S L Eaton; C Proudfoot; S G Lillico; P Skehel; R A Kline; K Hamer; N M Rzechorzek; E Clutton; R Gregson; T King; C A O'Neill; J D Cooper; G Thompson; C B Whitelaw; T M Wishart
Journal:  Sci Rep       Date:  2019-07-09       Impact factor: 4.379

8.  Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease.

Authors:  Jacob T Cain; Shibi Likhite; Katherine A White; Derek J Timm; Samantha S Davis; Tyler B Johnson; Cassandra N Dennys-Rivers; Federica Rinaldi; Dario Motti; Sarah Corcoran; Pablo Morales; Christopher Pierson; Stephanie M Hughes; Stella Y Lee; Brian K Kaspar; Kathrin Meyer; Jill M Weimer
Journal:  Mol Ther       Date:  2019-07-10       Impact factor: 11.454

9.  A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.

Authors:  Jeremy P Morgan; Helen Magee; Andrew Wong; Tarah Nelson; Bettina Koch; Jonathan D Cooper; Jill M Weimer
Journal:  PLoS One       Date:  2013-11-01       Impact factor: 3.240

10.  Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder.

Authors:  Alexandra Grubman; Grace E Lidgerwood; Clare Duncan; Laura Bica; Jiang-Li Tan; Sarah J Parker; Aphrodite Caragounis; Jodi Meyerowitz; Irene Volitakis; Diane Moujalled; Jeffrey R Liddell; James L Hickey; Malcolm Horne; Shoshanah Longmuir; Jari Koistinaho; Paul S Donnelly; Peter J Crouch; Imke Tammen; Anthony R White; Katja M Kanninen
Journal:  Acta Neuropathol Commun       Date:  2014-02-28       Impact factor: 7.801

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