Literature DB >> 1609842

English setter model and juvenile ceroid-lipofuscinosis in man.

N Koppang1.   

Abstract

The etiology of the juvenile type of the human ceroid-lipofuscinosis (JCL) is unknown, in spite of the fact that the first report of this disease was given more than 160 years ago. The necessity of good animal models for scientific progress in chronic metabolic diseases in humans is obvious. The inbred strain of English setter with ceroid-lipofuscinosis (CCL) seems to be a perfect model for human JCL. Dogs with CCL and organs for research purposes are available from Dr. Koppang's experimental kennel in Norway.

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Year:  1992        PMID: 1609842     DOI: 10.1002/ajmg.1320420434

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  8 in total

1.  An animal model of the infantile type of neuronal ceroid-lipofuscinosis.

Authors:  B Järplid; M Haltia
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 2.  The significance of animal models for human ceroid-lipofuscinosis.

Authors:  N Koppang
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Neuronal ceroid lipofuscinosis in the Polish Owczarek Nizinny (PON) dog. A retinal study.

Authors:  A Wrigstad; S E Nilsson; R Dubielzig; K Narfström
Journal:  Doc Ophthalmol       Date:  1995       Impact factor: 2.379

4.  Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.

Authors:  S E Mole
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

5.  Altered mitochondrial function in canine ceroid-lipofuscinosis.

Authors:  A N Siakotos; P S Blair; J D Savill; M L Katz
Journal:  Neurochem Res       Date:  1998-07       Impact factor: 3.996

6.  A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.

Authors:  Juyuan Guo; Dennis P O'Brien; Tendai Mhlanga-Mutangadura; Natasha J Olby; Jeremy F Taylor; Robert D Schnabel; Martin L Katz; Gary S Johnson
Journal:  BMC Vet Res       Date:  2015-01-03       Impact factor: 2.741

7.  Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis.

Authors:  A Kolicheski; H L Barnes Heller; S Arnold; R D Schnabel; J F Taylor; C A Knox; T Mhlanga-Mutangadura; D P O'Brien; G S Johnson; J Dreyfus; M L Katz
Journal:  J Vet Intern Med       Date:  2016-12-23       Impact factor: 3.333

Review 8.  Application of Anticonvulsants, Antiepileptic Drugs, and Vitamin C in the Treatment and Analysis of Batten Disease.

Authors:  Shreya Reddy; Hetal Brahmbhatt
Journal:  Cureus       Date:  2022-01-30
  8 in total

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