Literature DB >> 24014507

Large animal models for Batten disease: a review.

Krystal Weber1, David A Pearce.   

Abstract

The neuronal ceroid lipofuscinoses, collectively referred to as Batten disease, make up a group of inherited childhood disorders that result in blindness, motor and cognitive regression, brain atrophy, and seizures, ultimately leading to premature death. So far more than 10 genes have been implicated in different forms of the neuronal ceroid lipofuscinoses. Most related research has involved mouse models, but several naturally occurring large animal models have recently been discovered. In this review, we discuss the different large animal models and their significance in Batten disease research.

Entities:  

Keywords:  Batten disease; ONCL; animal models; neuronal ceroid lipofuscinosis

Mesh:

Substances:

Year:  2013        PMID: 24014507      PMCID: PMC4009683          DOI: 10.1177/0883073813493666

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  32 in total

1.  New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

Authors:  Ruth E Williams; Sara E Mole
Journal:  Neurology       Date:  2012-07-10       Impact factor: 9.910

2.  A variant form of neuronal ceroid lipofuscinosis in American bulldogs.

Authors:  Jason Evans; Martin L Katz; Donald Levesque; G Diane Shelton; Alexander de Lahunta; Dennis O'Brien
Journal:  J Vet Intern Med       Date:  2005 Jan-Feb       Impact factor: 3.333

3.  Neuronal ceroid lipofuscinosis in 3 Australian shepherd littermates.

Authors:  D P O'Brien; M L Katz
Journal:  J Vet Intern Med       Date:  2008 Mar-Apr       Impact factor: 3.333

4.  A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.

Authors:  Imke Tammen; Peter J Houweling; Tony Frugier; Nadia L Mitchell; Graham W Kay; Julie A L Cavanagh; Roger W Cook; Herman W Raadsma; David N Palmer
Journal:  Biochim Biophys Acta       Date:  2006-09-12

5.  Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.

Authors:  M F Broom; C Zhou; J E Broom; K J Barwell; R D Jolly; D F Hill
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

6.  A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.

Authors:  J Tyynelä; I Sohar; D E Sleat; R M Gin; R J Donnelly; M Baumann; M Haltia; P Lobel
Journal:  EMBO J       Date:  2000-06-15       Impact factor: 11.598

7.  Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis.

Authors:  Brian R Vuillemenot; Martin L Katz; Joan R Coates; Derek Kennedy; Pascale Tiger; Shinichi Kanazono; Peter Lobel; Istvan Sohar; Su Xu; Rhea Cahayag; Steve Keve; Eugen Koren; Stuart Bunting; Laurie S Tsuruda; Charles A O'Neill
Journal:  Mol Genet Metab       Date:  2011-06-30       Impact factor: 4.797

8.  Neuronal ceroid-lipofuscinosis in Borderdale sheep.

Authors:  R D Jolly; D G Arthur; G W Kay; D N Palmer
Journal:  N Z Vet J       Date:  2002-10       Impact factor: 1.628

9.  A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.

Authors:  Martin L Katz; Shahnawaz Khan; Tomoyuki Awano; S Adam Shahid; Aristotle N Siakotos; Gary S Johnson
Journal:  Biochem Biophys Res Commun       Date:  2005-02-11       Impact factor: 3.575

10.  A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.

Authors:  Tomoyuki Awano; Martin L Katz; Dennis P O'Brien; Istvan Sohar; Peter Lobel; Joan R Coates; Shahnawaz Khan; Gayle C Johnson; Urs Giger; Gary S Johnson
Journal:  Mol Genet Metab       Date:  2006-04-18       Impact factor: 4.204

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  9 in total

Review 1.  Therapeutic landscape for Batten disease: current treatments and future prospects.

Authors:  Tyler B Johnson; Jacob T Cain; Katherine A White; Denia Ramirez-Montealegre; David A Pearce; Jill M Weimer
Journal:  Nat Rev Neurol       Date:  2019-03       Impact factor: 42.937

2.  Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.

Authors:  Stephen J Sawiak; Sunthara Rajan Perumal; Skye R Rudiger; Loren Matthews; Nadia L Mitchell; Clive J McLaughlan; C Simon Bawden; David N Palmer; Timothy Kuchel; A Jennifer Morton
Journal:  PLoS One       Date:  2015-07-10       Impact factor: 3.240

Review 3.  Exacerbating and reversing lysosomal storage diseases: from yeast to humans.

Authors:  Tamayanthi Rajakumar; Andrew B Munkacsi; Stephen L Sturley
Journal:  Microb Cell       Date:  2017-08-25

Review 4.  Bridging the gap: large animal models in neurodegenerative research.

Authors:  S L Eaton; T M Wishart
Journal:  Mamm Genome       Date:  2017-04-04       Impact factor: 2.957

5.  Comparative anatomy of the mammalian neuromuscular junction.

Authors:  Ines Boehm; Abrar Alhindi; Ana S Leite; Chandra Logie; Alyssa Gibbs; Olivia Murray; Rizwan Farrukh; Robert Pirie; Christopher Proudfoot; Richard Clutton; Thomas M Wishart; Ross A Jones; Thomas H Gillingwater
Journal:  J Anat       Date:  2020-06-23       Impact factor: 2.610

Review 6.  A Review of the Current Mammalian Models of Alzheimer's Disease and Challenges That Need to Be Overcome.

Authors:  Natasha Elizabeth Mckean; Renee Robyn Handley; Russell Grant Snell
Journal:  Int J Mol Sci       Date:  2021-12-06       Impact factor: 5.923

Review 7.  Recognising the potential of large animals for modelling neuromuscular junction physiology and disease.

Authors:  Stephen D Cahalan; Ines Boehm; Ross A Jones; Richard J Piercy
Journal:  J Anat       Date:  2022-09-02       Impact factor: 2.921

Review 8.  Bovine Brain: An in vitro Translational Model in Developmental Neuroscience and Neurodegenerative Research.

Authors:  Antonella Peruffo; Bruno Cozzi
Journal:  Front Pediatr       Date:  2014-07-10       Impact factor: 3.418

9.  A Csf1r-EGFP Transgene Provides a Novel Marker for Monocyte Subsets in Sheep.

Authors:  Clare Pridans; Gemma M Davis; Kristin A Sauter; Zofia M Lisowski; Yolanda Corripio-Miyar; Anna Raper; Lucas Lefevre; Rachel Young; Mary E McCulloch; Simon Lillico; Elspeth Milne; Bruce Whitelaw; David A Hume
Journal:  J Immunol       Date:  2016-08-12       Impact factor: 5.422

  9 in total

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