OpenURL Connection Search

Select item for more details and to access through your institution.

Intracellular transport of acid β-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation).
Published in:
Journal of Pathology, 1999, v. 188, n. 4, p. 407, doi. 10.1002/(SICI)1096-9896(199908)188:4<407::AID-PATH377>3.0.CO;2-Z
By:
- Zimmer, Klaus-Peter;
- le Coutre, Philipp;
- Aerts, Hans M. F. G.;
- Harzer, Klaus;
- Fukuda, Minoru;
- O'Brien, John S.;
- Naim, Hassan Y.
Publication type:
Article
Diagnosis of Tay-Sachs.
Published in:
Nature, 1969, v. 224, n. 5223, p. 1038, doi. 10.1038/2241038b0
By:
- O'BRIEN, JOHN S.
Publication type:
Article
Phosphatidylinositol 3-kinase and Akt protein kinase mediate IGF-I- and prosaptide-induced survival in schwann cells.
Published in:
Journal of Neuroscience Research, 1999, v. 57, n. 3, p. 332, doi. 10.1002/(SICI)1097-4547(19990801)57:3<332::AID-JNR5>3.0.CO;2-0
By:
- Campana, W. Marie;
- Darin, Sam J.;
- O'Brien, John S.
Publication type:
Article
Prosaposin is immunolocalized to muscle and prosaptides promote myoblast fusion and attenuate loss of muscle mass after nerve injury.
Published in:
2001
By:
- Rende, Mario;
- Brizi, Emanuela;
- Donato, Rosario;
- Provenzano, Carlo;
- Bruno, Rosalinda;
- Mizisin, Andrew P.;
- Garrett, Robert S.;
- Calcutt, Nigel A.;
- Campana, W. Marie;
- O'Brien, John S.;
- Rende, M;
- Brizi, E;
- Donato, R;
- Provenzano, C;
- Bruno, R;
- Mizisin, A P;
- Garrett, R S;
- Calcutt, N A;
- Campana, W M;
- O'Brien, J S
Publication type:
journal article
Spectrum of mutations in fucosidosis.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 1, p. 60, doi. 10.1038/sj.ejhg.5200272
By:
- Willems, Patrick J;
- Seo, Hee-Chan;
- Coucke, Paul;
- Tonlorenzi, Rossana;
- O'Brien, John S
Publication type:
Article
LIPID COMPOSITION OF MYELIN FROM THE PERIPHERAL NERVOUS SYSTEM.
Published in:
Journal of Neurochemistry, 1967, v. 14, n. 3, p. 357, doi. 10.1111/j.1471-4159.1967.tb09532.x
By:
- O'Brien, John S.;
- Sampson, E. Lois;
- Stern, Maury B.
Publication type:
Article
Prosaposin: A myelinotrophic protein that promotes expression of myelin constituents and is secreted after nerve injury.
Published in:
Glia, 1999, v. 26, n. 4, p. 353, doi. 10.1002/(SICI)1098-1136(199906)26:4<353::AID-GLIA9>3.0.CO;2-G
By:
- Hiraiwa, Masao;
- Campana, W. Marie;
- Mizisin, Andrew P.;
- Mohiuddin, Liza;
- O'Brien, John S.
Publication type:
Article
Isolation, Characterization, and Mapping of a Human Acid β-Galactosidase cDNA.
Published in:
DNA & Cell Biology, 1990, v. 9, n. 2, p. 119, doi. 10.1089/dna.1990.9.119
By:
- YAMAMOTO, YOSHIMI;
- HAKE, CYNTHIA A.;
- MARTIN, BRIAN M.;
- KRETZ, KEITH A.;
- AHERN-RINDELL, AMELIA J.;
- NAYLOR, SUSAN L.;
- MUDD, MICHAL;
- O'BRIEN, JOHN S.
Publication type:
Article
Fatty Acid Composition of Sphingomyelin and Lecithin in Normal Human Serum.∗.
Published in:
Proceedings of the Society for Experimental Biology & Medicine, 1965, v. 119, n. 3, p. 862, doi. 10.3181/00379727-119-30321
By:
- O'Brien, John S.;
- Blankenhorn, David H.
Publication type:
Article
Folinic Acid Activity in Leucocytes.∗.
Published in:
Proceedings of the Society for Experimental Biology & Medicine, 1962, v. 109, n. 4, p. 843, doi. 10.3181/00379727-109-27353
By:
- O'Brien, John S.;
- Walsh, John R.
Publication type:
Article
Urinary Excretion of Folic and Folinic Acids in Normal Adults.∗.
Published in:
Proceedings of the Society for Experimental Biology & Medicine, 1960, v. 104, n. 2, p. 354, doi. 10.3181/00379727-104-25835
By:
- O'Brien, John S.
Publication type:
Article
Saposins (Sphingolipid Activator Proteins) in the Twitcher Mutant Mouse.
Published in:
Journal of Neurochemistry, 1990, v. 55, n. 5, p. 1659, doi. 10.1111/j.1471-4159.1990.tb04953.x
By:
- Shigematsu, Hidenari;
- Morimoto, Satoshi;
- Kishimoto, Yasuo;
- Weiler, Solly;
- Tomich, John;
- Barranger, John;
- Shinohara, Mitsuko;
- Yeager, Andrew M.;
- O'Brien, John S.
Publication type:
Article
The cherry-red spot-myoclonus syndrome.
Published in:
Annals of Neurology, 1978, v. 3, n. 3, p. 234, doi. 10.1002/ana.410030309
By:
- Rapin, Isabelle;
- Goldfischer, Sidney;
- Katzman, Robert;
- Engel, Jerome;
- O'Brien, John S.
Publication type:
Article
Phosphatidylinositol 3-Kinase and Akt Protein Kinase Mediate IGF-I and Prosaptide Induced Survival in Schwann Cells.
Published in:
1999
By:
- Campana, W. Marie;
- Darin, Sam J.;
- O'Brien, John S.
Publication type:
Abstract
A 66-Basepair insertion in Exon 6 of the α- L-fucosidase gene of a fucosidosis patient;.
Published in:
Human Mutation, 1996, v. 7, n. 2, p. 183, doi. 10.1002/humu.1380070203
By:
- Seo, Hee Chan;
- Yang, Meiheng;
- Kim, Alex H.;
- O'Brien, John S.;
- Dicioccio, Richard A.;
- Gordon, Bruce A.
Publication type:
Article
A nonsense mutation in two German patients with fucosidosis.
Published in:
Human Mutation, 1995, v. 6, n. 2, p. 184, doi. 10.1002/humu.1380060213
By:
- Seo, Hee-Chan;
- Heidemann, Peter H.;
- Lutz, Erwin;
- O'Brien, John S.
Publication type:
Article
A single-base deletion mutation in a Turkish patient with fucosidosis.
Published in:
Human Mutation, 1994, v. 3, n. 4, p. 407, doi. 10.1002/humu.1380030416
By:
- Seo, Hee-Chan;
- Kunze, Jürgen;
- Willems, Patrick J.;
- Kim, Alex H.;
- Hanefeld, Folker;
- O'Brien, John S.
Publication type:
Article
Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 8, p. 1205
By:
- Seo, Hee-Chan;
- Willems, Patrick J.;
- O'Brien, John S.
Publication type:
Article
Fucosidosis: four new mutations and a new polymorphism.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 4, p. 423
By:
- Seo, Hee-Chan;
- Willems, Patrick J.;
- Kretz, Keith A.;
- Martin, Brian M.;
- O'Brien, John S.
Publication type:
Article
Bone marrow transplantation in canine GM1 gangliosidosis.
Published in:
Clinical Genetics, 1990, v. 38, n. 4, p. 274, doi. 10.1111/j.1399-0004.1990.tb03581.x
By:
- O'Brien, John S.;
- Storb, Rainer;
- Raff, Robert F.;
- Harding, Jane;
- Appelbaum, Frederick;
- Morimoto, Satoshi;
- Kishimoto, Yasuo;
- Graham, Ted;
- Ahern-Rindell, Amelia;
- O'Brien, Susan L.
Publication type:
Article
Acid α-neuraminidase deficiency: a nephropathic phenotype?
Published in:
Clinical Genetics, 1988, v. 34, n. 3, p. 185, doi. 10.1111/j.1399-0004.1988.tb02861.x
By:
- Roth, Karl S.;
- Chan, James C.;
- Ghatak, Nitya R.;
- Mamunes, Peter;
- Miller, William W.;
- O'Brien, John S.
Publication type:
Article
Alpha-mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation.
Published in:
Clinical Genetics, 1984, v. 25, n. 3, p. 248, doi. 10.1111/j.1399-0004.1984.tb01985.x
By:
- Warner, Thomas G.;
- Mock, Amy K.;
- Nyhan, William L.;
- O'Brien, John S.
Publication type:
Article
Metachromatic leukodystrophy caused by a partial cerebroside sulfatase defect.
Published in:
Clinical Genetics, 1982, v. 21, n. 4, p. 253, doi. 10.1111/j.1399-0004.1982.tb00759.x
By:
- Kihara, Hayato;
- Fluharty, Arvan L.;
- O'Brien, John S.;
- Fish, Charles H.
Publication type:
Article
Sialidosis: delineation of subtypes by neuraminidase assay.
Published in:
Clinical Genetics, 1980, v. 17, n. 1, p. 35, doi. 10.1111/j.1399-0004.1980.tb00111.x
By:
- O'Brien, John S.;
- Warner, Thomas G.
Publication type:
Article
Uttrastructure of skin biopsy specimens in lysosomal storage diseases: Common sources of error in diagnosis.
Published in:
Clinical Genetics, 1979, v. 15, n. 2, p. 118, doi. 10.1111/j.1399-0004.1979.tb01750.x
By:
- Sipe, Jack C.;
- O'Brien, John S.
Publication type:
Article
Biochemical studies on an unusual case of fucosidosis.
Published in:
Clinical Genetics, 1978, v. 14, n. 4, p. 235, doi. 10.1111/j.1399-0004.1978.tb02137.x
By:
- Alhadeff, Jack A.;
- Andrews-smith, Grai L.;
- O'Brien, John S.
Publication type:
Article
The cherry red spot-myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency.
Published in:
Clinical Genetics, 1978, v. 14, n. 1, p. 55, doi. 10.1111/j.1399-0004.1978.tb02061.x
By:
- O'Brien, John S.
Publication type:
Article
Ganglioside G.
Published in:
Clinical Genetics, 1977, v. 11, n. 2, p. 171, doi. 10.1111/j.1399-0004.1977.tb01296.x
By:
- O'Brien, John S.;
- Norden, Anthony G. W.;
- Miller, Arnold L.;
- Frost, Russel G.;
- Kelly, Thaddeus E.
Publication type:
Article
Altered isoenzyme patterns of liver α-L-fucosidase in cystic fibrosis.
Published in:
Clinical Genetics, 1976, v. 10, n. 2, p. 63, doi. 10.1111/j.1399-0004.1976.tb00014.x
By:
- Alhadeff, Jack A.;
- Tennant, Linda;
- O'Brien, John S.
Publication type:
Article
Segregation within a family of two mutant alleles for hexosaminidase A.
Published in:
Clinical Genetics, 1976, v. 9, n. 5, p. 540, doi. 10.1111/j.1399-0004.1976.tb01609.x
By:
- Kelly, Thaddeus E.;
- Reynolds, Linda W.;
- O'Brien, John S.
Publication type:
Article
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β-galactosidase deficiency.
Published in:
Clinical Genetics, 1976, v. 9, n. 5, p. 495, doi. 10.1111/j.1399-0004.1976.tb01603.x
By:
- O'Brien, John S.;
- Gugler, E.;
- Giedion, A.;
- Wiessmann, U.;
- Herschkowitz1, N.;
- Meier, C.;
- Leroy, J.
Publication type:
Article
Clinical and biochemical expression of a unique mucopolysaccharidosis.
Published in:
Clinical Genetics, 1976, v. 9, n. 4, p. 399, doi. 10.1111/j.1399-0004.1976.tb02269.x
By:
- O'Brien, John S.;
- Nyhan, William L.;
- Shear, Carol;
- Schmidt, Louise;
- Veath, M. Lois
Publication type:
Article
Molecular genetics of GM.
Published in:
Clinical Genetics, 1975, v. 8, n. 5, p. 303, doi. 10.1111/j.1399-0004.1975.tb01507.x
By:
- O'Brien, John S.
Publication type:
Article

Found: 33