PubMed

Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1.

Wang D, Zaitsev S, Taylor G, d'Azzo A, Bonten E.

Biochim Biophys Acta. 2009 Apr;1790(4):275-82.PMID: 19714866 [PubMed - indexed for MEDLINE]Related articles

Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.

Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T.

Biochim Biophys Acta. 2009 Mar;1792(3):221-5.PMID: 19708128 [PubMed - indexed for MEDLINE]Related articles

Skeletal deformities in mucolipidosis III.

Somford MP, Vanhoenacker FM, Draijer WE, Kort NP, Thomassen BJ.

JBR-BTR. 2009 May-Jun;92(3):168-9. No abstract available. PMID: 19670582 [PubMed - indexed for MEDLINE]Related articles

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S.

Clin Genet. 2009 Jul;76(1):76-84.PMID: 19659762 [PubMed - indexed for MEDLINE]Related articles

What's your diagnosis? Mucolipidosis IV (Berman syndrome).

Yeung HH.

J Pediatr Ophthalmol Strabismus. 2009 May-Jun;46(3):137, 177. No abstract available. PMID: 19496492 [PubMed - indexed for MEDLINE]Related articles

The autosomal recessively inherited progressive myoclonus epilepsies and their genes.

Ramachandran N, Girard JM, Turnbull J, Minassian BA.

Epilepsia. 2009 May;50 Suppl 5:29-36. Review.PMID: 19469843 [PubMed - indexed for MEDLINE]Related articles

Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences.

Rubboli G, Gardella E, Capovilla G.

Epilepsia. 2009 May;50 Suppl 5:24-8. Review.PMID: 19469842 [PubMed - indexed for MEDLINE]Related articles

A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome.

Lai SC, Chen RS, Wu Chou YH, Chang HC, Kao LY, Huang YZ, Weng YH, Chen JK, Hwu WL, Lu CS.

Eur J Neurol. 2009 Aug;16(8):912-9. Epub 2009 Apr 14.PMID: 19473359 [PubMed - indexed for MEDLINE]Related articles

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T.

Hum Mutat. 2009 Jun;30(6):978-84.PMID: 19370764 [PubMed - indexed for MEDLINE]Related articles

Mucolipidosis type IV: the effect of increased lysosomal pH on the abnormal lysosomal storage.

Kogot-Levin A, Zeigler M, Ornoy A, Bach G.

Pediatr Res. 2009 Jun;65(6):686-90.PMID: 19247216 [PubMed - indexed for MEDLINE]Related articles

Corneal dystrophies.

Klintworth GK.

Orphanet J Rare Dis. 2009 Feb 23;4:7. Review.PMID: 19236704 [PubMed - indexed for MEDLINE]Related articlesFree article

The interactomics of sortilin: an ancient lysosomal receptor evolving new functions.

Canuel M, Libin Y, Morales CR.

Histol Histopathol. 2009 Apr;24(4):481-92. Review.PMID: 19224451 [PubMed - indexed for MEDLINE]Related articles

Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review.

Smuts I, Potgieter D, van der Westhuizen FH.

Ann N Y Acad Sci. 2009 Jan;1151:77-84. Review.PMID: 19154518 [PubMed - indexed for MEDLINE]Related articles

Farber disease: a rare neurodegenerative disorder.

Ahmad A, Mazhar AU, Anwar M.

J Coll Physicians Surg Pak. 2009 Jan;19(1):67-8.PMID: 19149988 [PubMed - indexed for MEDLINE]Related articles

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.

Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B.

Biochim Biophys Acta. 2009 Apr;1793(4):710-25. Epub 2008 Dec 10. Review.PMID: 19124046 [PubMed - indexed for MEDLINE]Related articles

Chaperone-mediated autophagy is defective in mucolipidosis type IV.

Venugopal B, Mesires NT, Kennedy JC, Curcio-Morelli C, Laplante JM, Dice JF, Slaugenhaupt SA.

J Cell Physiol. 2009 May;219(2):344-53.PMID: 19117012 [PubMed - indexed for MEDLINE]Related articles

A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent.

Bindu PS, Gayathri N, Yasha TC, Kovoor JM, Subasree R, Rao S, Panda S, Pal PK.

J Child Neurol. 2008 Dec;23(12):1443-6.PMID: 19073851 [PubMed - indexed for MEDLINE]Related articles

Macular cherry-red spot and corneal haze in sialidosis (mucolipidosis type 1).

Goldberg MF.

Arch Ophthalmol. 2008 Dec;126(12):1778; author reply 1778. No abstract available. PMID: 19064869 [PubMed - indexed for MEDLINE]Related articles

Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells.

Venkatachalam K, Long AA, Elsaesser R, Nikolaeva D, Broadie K, Montell C.

Cell. 2008 Nov 28;135(5):838-51.PMID: 19041749 [PubMed - indexed for MEDLINE]Related articlesFree article

Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.

Tüysüz B, Goldin E, Metin B, Korkmaz B, Yalçinkaya C.

Brain Dev. 2009 Oct;31(9):702-5. Epub 2008 Nov 8.PMID: 19006653 [PubMed - indexed for MEDLINE]Related articles