Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 127

1.

A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.

Villani NA, Bullock G, Michaels JR, Yamato O, O'Brien DP, Mhlanga-Mutangadura T, Johnson GS, Katz ML.

Mol Genet Metab. 2019 May;127(1):107-115. doi: 10.1016/j.ymgme.2019.04.003. Epub 2019 Apr 17.

2.

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.

Kolicheski A, Johnson GS, O'Brien DP, Mhlanga-Mutangadura T, Gilliam D, Guo J, Anderson-Sieg TD, Schnabel RD, Taylor JF, Lebowitz A, Swanson B, Hicks D, Niman ZE, Wininger FA, Carpentier MC, Katz ML.

J Vet Intern Med. 2016 Jul;30(4):1149-58. doi: 10.1111/jvim.13971. Epub 2016 May 20.

3.

A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.

Guo J, Johnson GS, Brown HA, Provencher ML, da Costa RC, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, O'Brien DP, Katz ML.

Mol Genet Metab. 2014 Aug;112(4):302-9. doi: 10.1016/j.ymgme.2014.05.014. Epub 2014 Jun 4.

4.

ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis.

Schmutz I, Jagannathan V, Bartenschlager F, Stein VM, Gruber AD, Leeb T, Katz ML.

Mol Genet Metab. 2019 May;127(1):95-106. doi: 10.1016/j.ymgme.2018.11.015. Epub 2019 Mar 27.

5.

Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.

Ashwini A, D'Angelo A, Yamato O, Giordano C, Cagnotti G, Harcourt-Brown T, Mhlanga-Mutangadura T, Guo J, Johnson GS, Katz ML.

Mol Genet Metab. 2016 Aug;118(4):326-32. doi: 10.1016/j.ymgme.2016.05.008. Epub 2016 May 13.

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.

Guo J, O'Brien DP, Mhlanga-Mutangadura T, Olby NJ, Taylor JF, Schnabel RD, Katz ML, Johnson GS.

BMC Vet Res. 2015 Jan 3;10:960. doi: 10.1186/s12917-014-0181-z.

7.

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Hirz M, Drögemüller M, Schänzer A, Jagannathan V, Dietschi E, Goebel HH, Hecht W, Laubner S, Schmidt MJ, Steffen F, Hilbe M, Köhler K, Drögemüller C, Herden C.

Mol Genet Metab. 2017 Mar;120(3):269-277. doi: 10.1016/j.ymgme.2016.12.007. Epub 2016 Dec 19.

PMID:
28024876
8.

A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.

Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN.

Genomics. 2005 Sep;86(3):287-94.

PMID:
16033706
9.

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.

Gilliam D, Kolicheski A, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Katz ML.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):101-9. doi: 10.1016/j.ymgme.2015.04.001. Epub 2015 Apr 23.

10.

Characterization of candidate genes for neuronal ceroid lipofuscinosis in dog.

Drögemüller C, Wöhlke A, Distl O.

J Hered. 2005;96(7):735-8. Epub 2005 Jun 15.

PMID:
15958790
11.

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.

Katz ML, Rustad E, Robinson GO, Whiting REH, Student JT, Coates JR, Narfstrom K.

Neurobiol Dis. 2017 Dec;108:277-287. doi: 10.1016/j.nbd.2017.08.017. Epub 2017 Aug 30. Review.

12.

Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8.

Lingaas F, Guttersrud OA, Arnet E, Espenes A.

Anim Genet. 2018 Feb;49(1):52-58. doi: 10.1111/age.12629.

PMID:
29446145
13.

A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis.

Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS, O'Brien DP.

J Biomed Biotechnol. 2011;2011:198042. doi: 10.1155/2011/198042. Epub 2010 Dec 22.

14.

Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan.

Mizukami K, Chang HS, Yabuki A, Kawamichi T, Kawahara N, Hayashi D, Hossain MA, Rahman MM, Uddin MM, Yamato O.

J Vet Diagn Invest. 2011 Nov;23(6):1131-9. doi: 10.1177/1040638711425590.

PMID:
22362793
15.

Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.

Houweling PJ, Cavanagh JA, Palmer DN, Frugier T, Mitchell NL, Windsor PA, Raadsma HW, Tammen I.

Biochim Biophys Acta. 2006 Oct;1762(10):890-7. Epub 2006 Jul 25.

16.

Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.

Uusi-Rauva K, Blom T, von Schantz-Fant C, Blom T, Jalanko A, Kyttälä A.

Int J Mol Sci. 2017 May 1;18(5). pii: E955. doi: 10.3390/ijms18050955.

17.

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

Awano T, Katz ML, O'Brien DP, Sohar I, Lobel P, Coates JR, Khan S, Johnson GC, Giger U, Johnson GS.

Mol Genet Metab. 2006 Nov;89(3):254-60. Epub 2006 Apr 18.

PMID:
16621647
18.

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

Kolicheski A, Barnes Heller HL, Arnold S, Schnabel RD, Taylor JF, Knox CA, Mhlanga-Mutangadura T, O'Brien DP, Johnson GS, Dreyfus J, Katz ML.

J Vet Intern Med. 2017 Jan;31(1):149-157. doi: 10.1111/jvim.14632. Epub 2016 Dec 23.

19.

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

Faller KM, Bras J, Sharpe SJ, Anderson GW, Darwent L, Kun-Rodrigues C, Alroy J, Penderis J, Mole SE, Gutierrez-Quintana R, Guerreiro RJ.

J Neurosci Res. 2016 Apr;94(4):339-47. doi: 10.1002/jnr.23710. Epub 2016 Jan 13.

PMID:
26762174
20.

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.

Wöhlke A, Philipp U, Bock P, Beineke A, Lichtner P, Meitinger T, Distl O.

PLoS Genet. 2011 Oct;7(10):e1002304. doi: 10.1371/journal.pgen.1002304. Epub 2011 Oct 13.

Supplemental Content

Support Center