Identification of HE1 as the second gene of Niemann-Pick C disease S Naureckiene, DE Sleat, H Lackland, A Fensom, MT Vanier, R Wattiaux, ... Science 290 (5500), 2298-2301, 2000 | 1006 | 2000 |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis DE Sleat, RJ Donnelly, H Lackland, CG Liu, I Sohar, RK Pullarkat, P Lobel Science 277 (5333), 1802-1805, 1997 | 653 | 1997 |
Mannose 6-phosphate receptors and lysosomal enzyme targeting NM Dahms, P Lobel, S Kornfeld Journal of Biological Chemistry 264 (21), 12115-12118, 1989 | 649 | 1989 |
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport DE Sleat, JA Wiseman, M El-Banna, SM Price, L Verot, MM Shen, GS Tint, ... Proceedings of the National Academy of Sciences 101 (16), 5886-5891, 2004 | 432 | 2004 |
Structure of a cholesterol-binding protein deficient in Niemann–Pick type C2 disease N Friedland, HL Liou, P Lobel, AM Stock Proceedings of the National Academy of Sciences 100 (5), 2512-2517, 2003 | 378 | 2003 |
Proteomics of the lysosome T Lübke, P Lobel, DE Sleat Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1793 (4), 625-635, 2009 | 354 | 2009 |
Mutations in the cytoplasmic domain of the 275 kd mannose 6-phosphate receptor differentially alter lysosomal enzyme sorting and endocytosis P Lobel, K Fujimoto, DY Richard, G Griffiths, S Kornfeld Cell 57 (5), 787-796, 1989 | 346 | 1989 |
Activation of microglia acidifies lysosomes and leads to degradation of Alzheimer amyloid fibrils A Majumdar, D Cruz, N Asamoah, A Buxbaum, I Sohar, P Lobel, ... Molecular biology of the cell 18 (4), 1490-1496, 2007 | 321 | 2007 |
Cloning and sequence analysis of the cation-independent mannose 6-phosphate receptor. P Lobel, NM Dahms, S Kornfeld Journal of Biological Chemistry 263 (5), 2563-2570, 1988 | 283 | 1988 |
A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration J Tyynelä, I Sohar, DE Sleat, RM Gin, RJ Donnelly, M Baumann, M Haltia, ... The EMBO journal, 2000 | 269 | 2000 |
Structural basis of sterol binding by NPC2, a lysosomal protein deficient in Niemann-Pick type C2 disease S Xu, B Benoff, HL Liou, P Lobel, AM Stock Journal of Biological Chemistry 282 (32), 23525-23531, 2007 | 267 | 2007 |
Mechanism of Cholesterol Transfer from the Niemann-Pick Type C2 Protein to Model Membranes Supports a Role in Lysosomal Cholesterol Transport*♦ SR Cheruku, Z Xu, R Dutia, P Lobel, J Storch Journal of Biological Chemistry 281 (42), 31594-31604, 2006 | 258 | 2006 |
46 kd mannose 6-phosphate receptor: cloning, expression, and homology to the 215 kd mannose 6-phosphate receptor NM Dahms, P Lobel, J Breitmeyer, JM Chirgwin, S Kornfeld Cell 50 (2), 181-192, 1987 | 203 | 1987 |
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder DE Sleat, RM Gin, I Sohar, K Wisniewski, S Sklower-Brooks, RK Pullarkat, ... The American Journal of Human Genetics 64 (6), 1511-1523, 1999 | 202 | 1999 |
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group G Millat, K Chikh, S Naureckiene, DE Sleat, AH Fensom, K Higaki, ... The American Journal of Human Genetics 69 (5), 1013-1021, 2001 | 186 | 2001 |
Differential sorting of lysosomal enzymes in mannose 6‐phosphate receptor‐deficient fibroblasts. T Ludwig, H Munier‐Lehmann, U Bauer, M Hollinshead, C Ovitt, P Lobel, ... The EMBO journal 13 (15), 3430-3437, 1994 | 182 | 1994 |
Cloning of the bovine 215-kDa cation-independent mannose 6-phosphate receptor. P Lobel, NM Dahms, J Breitmeyer, JM Chirgwin, S Kornfeld Proceedings of the National Academy of Sciences 84 (8), 2233-2237, 1987 | 181 | 1987 |
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis M Chang, JD Cooper, DE Sleat, SH Cheng, JC Dodge, MA Passini, ... Molecular Therapy 16 (4), 649-656, 2008 | 178 | 2008 |
The arrangement of the subunits of the acetylcholine receptor of Torpedo californica. A Karlin, E Holtzman, N Yodh, P Lobel, J Wall, J Hainfeld Journal of Biological Chemistry 258 (11), 6678-6681, 1983 | 162 | 1983 |
A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis T Awano, ML Katz, DP O’Brien, JF Taylor, J Evans, S Khan, I Sohar, ... Molecular genetics and metabolism 87 (4), 341-348, 2006 | 161 | 2006 |