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Results: 1-21 |
Results: 21
Lysosomal ceroid depletion by drugs: Therapeutic implications for a hereditary neurodegenerative disease of childhood
Authors: Zhang, ZJ Butler, JD Levin, SW Wisniewski, KE Brooks, SS Mukherjee, AB
Citation: Zj. Zhang et al., Lysosomal ceroid depletion by drugs: Therapeutic implications for a hereditary neurodegenerative disease of childhood, NAT MED, 7(4), 2001, pp. 478-484
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses
Authors: Wisniewski, KE Zhong, N Philippart, M
Citation: Ke. Wisniewski et al., Pheno/genotypic correlations of neuronal ceroid lipofuscinoses, NEUROLOGY, 57(4), 2001, pp. 576-581
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice
Authors: Gupta, P Soyombo, AA Atashband, A Wisniewski, KE Shelton, JM Richardson, JA Hammer, RE Hofmann, SL
Citation: P. Gupta et al., Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice, P NAS US, 98(24), 2001, pp. 13566-13571
Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions
Authors: Kida, E Golabek, AA Walus, M Wujek, P Kaczmarski, W Wisniewski, KE
Citation: E. Kida et al., Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions, J NE EXP NE, 60(3), 2001, pp. 280-292
Neuronal ceroid lipofuscinoses: research update
Authors: Wisniewski, KE Kida, E Connell, F Zhong, N
Citation: Ke. Wisniewski et al., Neuronal ceroid lipofuscinoses: research update, NEUROL SCI, 21(3), 2000, pp. S49-S56
Heterogeneity of late-infantile neuronal ceroid lipofuscinosis
Authors: Zhong, N Moroziewicz, DN Ju, WN Jurkiewicz, A Johnston, L Wisniewski, KE Brown, WT
Citation: N. Zhong et al., Heterogeneity of late-infantile neuronal ceroid lipofuscinosis, GENET MED, 2(6), 2000, pp. 312-318
CLN3 protein regulates lysosomal pH and alters intracellular processing ofAlzheimer's amyloid-beta protein precursor and cathepsin D in human cells
Authors: Golabek, AA Kida, E Walus, M Kaczmarski, W Michalewski, M Wisniewski, KE
Citation: Aa. Golabek et al., CLN3 protein regulates lysosomal pH and alters intracellular processing ofAlzheimer's amyloid-beta protein precursor and cathepsin D in human cells, MOL GEN MET, 70(3), 2000, pp. 203-213
Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses
Authors: Zhong, NA Wisniewski, KE Ju, WN Moroziewicz, DN Jurkiewicz, A McLendon, L Jenkins, EC Brown, WT
Citation: Na. Zhong et al., Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses, GENET TEST, 4(3), 2000, pp. 243-248
Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis
Authors: Bodzioch, M Aslanidis, C Kacinski, M Zhong, N Wisniewski, KE Schmitz, G
Citation: M. Bodzioch et al., Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis, CLIN CHEM, 46(10), 2000, pp. 1696-1699
Temporal accrual of complement proteins in amyloid plaques in Down's syndrome with Alzheimer's disease
Authors: Stoltzner, SE Grenfell, TJ Mori, C Wisniewski, KE Wisniewski, TM Selkoe, DJ Lemere, CA
Citation: Se. Stoltzner et al., Temporal accrual of complement proteins in amyloid plaques in Down's syndrome with Alzheimer's disease, AM J PATH, 156(2), 2000, pp. 489-499
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutationsin the CLN2 gene
Authors: Hartikainen, JM Ju, WN Wisniewski, KE Moroziewicz, DN Kaczmarski, AL McLendon, L Zhong, D Suarez, CT Brown, WT Zhong, N
Citation: Jm. Hartikainen et al., Late infantile neuronal ceroid lipofuscinosis is due to splicing mutationsin the CLN2 gene, MOL GEN MET, 67(2), 1999, pp. 162-168
Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency
Authors: Hofmann, SL Das, AK Yi, W Lu, JY Wisniewski, KE
Citation: Sl. Hofmann et al., Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency, MOL GEN MET, 66(4), 1999, pp. 234-239
Reevaluation of neuronal ceroid lipofuscinoses: Atypical juvenile onset may be the result of CLN2 mutations
Authors: Wisniewski, KE Kaczmarski, A Kida, E Connell, F Kaczmarski, W Michalewski, MP Moroziewicz, DN Zhong, N
Citation: Ke. Wisniewski et al., Reevaluation of neuronal ceroid lipofuscinoses: Atypical juvenile onset may be the result of CLN2 mutations, MOL GEN MET, 66(4), 1999, pp. 248-252
Studies of membrane association of CLN3 protein
Authors: Kaczmarski, W Wisniewski, KE Golabek, A Kaczmarski, A Kida, E Michalewski, M
Citation: W. Kaczmarski et al., Studies of membrane association of CLN3 protein, MOL GEN MET, 66(4), 1999, pp. 261-264
Analysis of intracellular distribution and trafficking of the CLN3 proteinin fusion with the green fluorescent protein in vitro
Authors: Kida, E Kaczmarski, W Golabek, AA Kaczmarski, A Michalewski, M Wisniewski, KE
Citation: E. Kida et al., Analysis of intracellular distribution and trafficking of the CLN3 proteinin fusion with the green fluorescent protein in vitro, MOL GEN MET, 66(4), 1999, pp. 265-271
Posttranslational modification of CLN3 protein and its possible functionalimplication
Authors: Michalewski, MP Kaczmarski, W Golabek, AA Kida, E Kaczmarski, A Wisniewski, KE
Citation: Mp. Michalewski et al., Posttranslational modification of CLN3 protein and its possible functionalimplication, MOL GEN MET, 66(4), 1999, pp. 272-276
Expression studies of CLN3 protein (Battenin) in fusion with the green fluorescent protein in mammalian cells in vitro
Authors: Golabek, AA Kaczmarski, W Kida, E Kaczmarski, A Michalewski, MP Wisniewski, KE
Citation: Aa. Golabek et al., Expression studies of CLN3 protein (Battenin) in fusion with the green fluorescent protein in mammalian cells in vitro, MOL GEN MET, 66(4), 1999, pp. 277-282
Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: A new genetic disorder?
Authors: Rose, AL Farmer, PM Mitra, N Wisniewski, KE Pullarkat, RK
Citation: Al. Rose et al., Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: A new genetic disorder?, J CHILD NEU, 14(2), 1999, pp. 123-129
A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis
Authors: Junaid, MA Brooks, SS Wisniewski, KE Pullarkat, RK
Citation: Ma. Junaid et al., A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis, CLIN CHIM A, 281(1-2), 1999, pp. 169-176
Immunoblotting with antiphosphoamino acid antibodies: Importance of the blocking solution
Authors: Michalewski, MP Kaczmarski, W Golabek, A Kida, E Kaczmarski, A Wisniewski, KE
Citation: Mp. Michalewski et al., Immunoblotting with antiphosphoamino acid antibodies: Importance of the blocking solution, ANALYT BIOC, 276(2), 1999, pp. 254-257
Evidence for phosphorylation of CLN3 protein associated with Batten disease
Authors: Michalewski, MP Kaczmarski, W Golabek, AA Kida, E Kaczmarski, A Wisniewski, KE
Citation: Mp. Michalewski et al., Evidence for phosphorylation of CLN3 protein associated with Batten disease, BIOC BIOP R, 253(2), 1998, pp. 458-462
Risultati: 1-21 |