PMC Links for OMIM (Select 176801) - PMC - NCBI

Result Filters

Links from OMIM

Items: 14

Select item 63230301.

The Second Case of Saposin A Deficiency and Altered Autophagy

Melis Kose, Secil Akyildiz Demir, Gulcin Akinci, Cenk Eraslan, Unsal Yilmaz, Serdar Ceylaner, Eser Sozmen Yildirim, Volkan Seyrantepe

JIMD Rep. 2019; 44: 43–54. Published online 2018 Jul 12. doi: 10.1007/8904_2018_114

PMCID:: PMC6323030

Abstract Article PDF–1.2M

Select item 34374692.

Prosaposin Deficiency and Saposin B Deficiency (Activator-Deficient Metachromatic Leukodystrophy): Report on Two Patients Detected by Analysis of Urinary Sphingolipids and Carrying Novel PSAP Gene Mutations

Ladislav Kuchař, Jana Ledvinová, Martin Hřebíček, Helena Myšková, Lenka Dvořáková, Linda Berná, Petr Chrastina, Befekadu Asfaw, Milan Elleder, Margret Petermöller, Heidi Mayrhofer, Martin Staudt, Ingeborg Krägeloh-Mann, Barbara C Paton, Klaus Harzer

Am J Med Genet A. 2009 Apr; 149A(4): 613–621. Published online 2009 Mar 6. doi: 10.1002/ajmg.a.32712

PMCID:: PMC3437469

Abstract Article PDF–298K

Select item 29185373.

Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins

Dapeng Zhou, Carlos Cantu, III, Yuval Sagiv, Nicolas Schrantz, Ashok B. Kulkarni, Xiaoyang Qi, Don J. Mahuran, Carlos R. Morales, Gregory A. Grabowski, Kamel Benlagha, Paul Savage, Albert Bendelac, Luc Teyton

Science. Author manuscript; available in PMC 2010 Aug 9.

Published in final edited form as: Science. 2004 Jan 23; 303(5657): 523–527. Published online 2003 Dec 18. doi: 10.1126/science.1092009

PMCID:: PMC2918537

Abstract Article PDF–765K

Select item 28073724.

Specific saposin C deficiency: CNS impairment and acid β-glucosidase effects in the mouse

Ying Sun, Huimin Ran, Matt Zamzow, Kazuyuki Kitatani, Matthew R. Skelton, Michael T. Williams, Charles V. Vorhees, David P. Witte, Yusuf A. Hannun, Gregory A. Grabowski

Hum Mol Genet. 2010 Feb 15; 19(4): 634–647. Published online 2009 Dec 16. doi: 10.1093/hmg/ddp531

PMCID:: PMC2807372

Abstract Article PDF–827K

Select item 19149535.

Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.

M. Henseler, A. Klein, M. Reber, M. T. Vanier, P. Landrieu, K. Sandhoff

Am J Hum Genet. 1996 Jan; 58(1): 65–74.

PMCID:: PMC1914953

Summary Page Browse PDF–2.4M

Select item 18384436.

Saposin B is the dominant saposin that facilitates lipid binding to human CD1d molecules

Weiming Yuan, Xiaoyang Qi, Pansy Tsang, Suk-Jo Kang, Petr A. Illarionov, Gurdyal S. Besra, Jenny Gumperz, Peter Cresswell

Proc Natl Acad Sci U S A. 2007 Mar 27; 104(13): 5551–5556. Published online 2007 Mar 19. doi: 10.1073/pnas.0700617104

Correction in:: Proc Natl Acad Sci U S A. 2007 May 22; 104(21): 9099.

PMCID:: PMC1838443

Abstract Article PDF–1.5M

Select item 16846277.

Assignment of the gene for human sphingolipid activator protein-2 (SAP-2) to chromosome 10.

S Fujibayashi, F T Kao, C Jones, H Morse, M Law, D A Wenger

Am J Hum Genet. 1985 Jul; 37(4): 741–748.

PMCID:: PMC1684627

Summary Page Browse PDF–933K

Select item 11328138.

Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase.

B C Paton, B Schmid, B Kustermann-Kuhn, A Poulos, K Harzer

Biochem J. 1992 Jul 15; 285(Pt 2): 481–488. doi: 10.1042/bj2850481

PMCID:: PMC1132813

Summary Page Browse PDF–1.9M

Select item 3895319.

Gaucher's Disease: Deficiency of “cid”β-Glucosidase and Reconstitution of Enzyme Activity In Vitro

Mae Wan Ho, John S. O'Brien

Proc Natl Acad Sci U S A. 1971 Nov; 68(11): 2810–2813. doi: 10.1073/pnas.68.11.2810

PMCID:: PMC389531

Summary Page Browse PDF–791K

Select item 29960410.

Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor.

N N Dewji, D A Wenger, J S O'Brien

Proc Natl Acad Sci U S A. 1987 Dec; 84(23): 8652–8656. doi: 10.1073/pnas.84.23.8652

PMCID:: PMC299604

Summary Page Browse PDF–802K

Select item 28713811.

Saposin A: second cerebrosidase activator protein.

S Morimoto, B M Martin, Y Yamamoto, K A Kretz, J S O'Brien, Y Kishimoto

Proc Natl Acad Sci U S A. 1989 May; 86(9): 3389–3393. doi: 10.1073/pnas.86.9.3389

PMCID:: PMC287138

Summary Page Browse PDF–1.1M

Select item 5372512.

Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.

K A Kretz, G S Carson, S Morimoto, Y Kishimoto, A L Fluharty, J S O'Brien

Proc Natl Acad Sci U S A. 1990 Apr; 87(7): 2541–2544. doi: 10.1073/pnas.87.7.2541

PMCID:: PMC53725

Summary Page Browse PDF–857K

Select item 5348813.

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.

X L Zhang, M A Rafi, G DeGala, D A Wenger

Proc Natl Acad Sci U S A. 1990 Feb; 87(4): 1426–1430. doi: 10.1073/pnas.87.4.1426

PMCID:: PMC53488

Summary Page Browse PDF–1.1M

Select item 5052814.

Binding and transport of gangliosides by prosaposin.

M Hiraiwa, S Soeda, Y Kishimoto, J S O'Brien

Proc Natl Acad Sci U S A. 1992 Dec 1; 89(23): 11254–11258. doi: 10.1073/pnas.89.23.11254

PMCID:: PMC50528

Summary Page Browse PDF–1.0M

Supplemental Content

Filter your results:

All (14)
NIH grants (9)
Embargoed (0)

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Links for OMIM (Select 176801) (14)
PMC

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

You are here: NCBI > Literature > PubMed Central (PMC)