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11. 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. PubMed ID: 27211611 [TBL] [Abstract][Full Text] [Related]
12. Lysosomal storage of the DCCD reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroid lipofuscinoses. Palmer DN; Fearnley IM; Medd SM; Walker JE; Martinus RD; Bayliss SL; Hall NA; Lake BD; Wolfe LS; Jolly RD Adv Exp Med Biol; 1989; 266():211-22; discussion 223. PubMed ID: 2535017 [TBL] [Abstract][Full Text] [Related]
13. Ovine ceroid-lipofuscinosis II: Pathologic changes interpreted in light of biochemical observations. Jolly RD; Shimada A; Craig AS; Kirkland KB; Palmer DN Am J Med Genet Suppl; 1988; 5():159-70. PubMed ID: 3146314 [TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 24953404 [TBL] [Abstract][Full Text] [Related]
15. Variant proteins in ovine ceroid-lipofuscinosis. Moroni-Rawson P; Palmer DN; Jolly RD; Jordan TW Am J Med Genet; 1995 Jun; 57(2):279-84. PubMed ID: 7668345 [TBL] [Abstract][Full Text] [Related]
16. Ceroid lipofuscinosis in sheep. II. The major component of the lipopigment in liver, kidney, pancreas, and brain is low molecular weight protein. Palmer DN; Barns G; Husbands DR; Jolly RD J Biol Chem; 1986 Feb; 261(4):1773-7. PubMed ID: 3944108 [TBL] [Abstract][Full Text] [Related]
17. Ovine ceroid lipofuscinosis. The major lipopigment protein and the lipid-binding subunit of mitochondrial ATP synthase have the same NH2-terminal sequence. Palmer DN; Martinus RD; Cooper SM; Midwinter GG; Reid JC; Jolly RD J Biol Chem; 1989 Apr; 264(10):5736-40. PubMed ID: 2522438 [TBL] [Abstract][Full Text] [Related]
18. 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; 10():960. PubMed ID: 25551667 [TBL] [Abstract][Full Text] [Related]
19. The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase. Fearnley IM; Walker JE; Martinus RD; Jolly RD; Kirkland KB; Shaw GJ; Palmer DN Biochem J; 1990 Jun; 268(3):751-8. PubMed ID: 2141977 [TBL] [Abstract][Full Text] [Related]
20. Submitochondrial distribution and delayed proteolysis of subunit c of the H+-transporting ATP-synthase in ovine ceroid-lipofuscinosis. Hughes SM; Moroni-Rawson P; Jolly RD; Jordan TW Electrophoresis; 2001 May; 22(9):1785-94. PubMed ID: 11425233 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]