Lobel P - Search Results

1

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT. Millat G, et al. Among authors: lobel p. Am J Hum Genet. 2001 Nov;69(5):1013-21. doi: 10.1086/324068. Epub 2001 Sep 20. Am J Hum Genet. 2001. PMID: 11567215 Free PMC article.

2

Increased levels of glycoproteins containing mannose 6-phosphate in human breast carcinomas.

Sleat DE, Chen TL, Raska K Jr, Lobel P. Sleat DE, et al. Among authors: lobel p. Cancer Res. 1995 Aug 1;55(15):3424-30. Cancer Res. 1995. PMID: 7614483

3

Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis.

Sleat DE, Sohar I, Lackland H, Majercak J, Lobel P. Sleat DE, et al. Among authors: lobel p. J Biol Chem. 1996 Aug 9;271(32):19191-8. doi: 10.1074/jbc.271.32.19191. J Biol Chem. 1996. PMID: 8702598 Free article.

4

Ligand binding specificities of the two mannose 6-phosphate receptors.

Sleat DE, Lobel P. Sleat DE, et al. Among authors: lobel p. J Biol Chem. 1997 Jan 10;272(2):731-8. doi: 10.1074/jbc.272.2.731. J Biol Chem. 1997. PMID: 8995357 Free article.

5

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.

Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P. Sleat DE, et al. Among authors: lobel p. Science. 1997 Sep 19;277(5333):1802-5. doi: 10.1126/science.277.5333.1802. Science. 1997. PMID: 9295267

6

Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis.

Liu CG, Sleat DE, Donnelly RJ, Lobel P. Liu CG, et al. Among authors: lobel p. Genomics. 1998 Jun 1;50(2):206-12. doi: 10.1006/geno.1998.5328. Genomics. 1998. PMID: 9653647

7

Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses.

Sleat DE, Sohar I, Pullarkat PS, Lobel P, Pullarkat RK. Sleat DE, et al. Among authors: lobel p. Biochem J. 1998 Sep 15;334 ( Pt 3)(Pt 3):547-51. doi: 10.1042/bj3340547. Biochem J. 1998. PMID: 9729460 Free PMC article.

8

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P. Sleat DE, et al. Among authors: lobel p. Am J Hum Genet. 1999 Jun;64(6):1511-23. doi: 10.1086/302427. Am J Hum Genet. 1999. PMID: 10330339 Free PMC article.

9

Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models.

Sohar I, Sleat DE, Jadot M, Lobel P. Sohar I, et al. Among authors: lobel p. J Neurochem. 1999 Aug;73(2):700-11. doi: 10.1046/j.1471-4159.1999.0730700.x. J Neurochem. 1999. PMID: 10428067 Free article.

10

Prenatal testing for late infantile neuronal ceroid lipofuscinosis.

Berry-Kravis E, Sleat DE, Sohar I, Meyer P, Donnelly R, Lobel P. Berry-Kravis E, et al. Among authors: lobel p. Ann Neurol. 2000 Feb;47(2):254-7. Ann Neurol. 2000. PMID: 10665500

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