Literature DB >> 1191304

Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV.

G Bach, M M Cohen, G Kohn.   

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Year:  1975        PMID： 1191304     DOI： 10.1016/0006-291x(75)90526-4

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  21 in total

1.  G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts.

Authors:  S Raghavan; E Leshinsky; E H Kolodny
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  Medical genetics in Israel.

Authors:  R M Goodman; B Bonne-Tamir; A Adam; R Voss; G Bach; Y Shiloh; M B Katznelson; G Barkai; B Goldman; B Padeh
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

3.  Mucolipidosis type IV: abnormal transport of lipids to lysosomes.

Authors:  R Bargal; G Bach
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

4.  N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.

Authors:  Lauren C Boudewyn; Jakub Sikora; Ladislav Kuchar; Jana Ledvinova; Yulia Grishchuk; Shirley L Wang; Kostantin Dobrenis; Steven U Walkley
Journal:  Neurobiol Dis       Date:  2017-06-10       Impact factor: 5.996

5.  Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis.

Authors:  S M Jansen; J E Groener; W Bax; B J Poorthuis
Journal:  J Inherit Metab Dis       Date:  2001-10       Impact factor: 4.982

Review 6.  Mucolipin 1: endocytosis and cation channel--a review.

Authors:  Gideon Bach
Journal:  Pflugers Arch       Date:  2004-11-27       Impact factor: 3.657

7.  The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.

Authors:  Mohammad A Samie; Christian Grimm; Jeffrey A Evans; Cyntia Curcio-Morelli; Stefan Heller; Susan A Slaugenhaupt; Math P Cuajungco
Journal:  Pflugers Arch       Date:  2009-11       Impact factor: 3.657

8.  Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV.

Authors:  Bhuvarahamurthy Venugopal; Marsha F Browning; Cyntia Curcio-Morelli; Andrea Varro; Norman Michaud; Nanda Nanthakumar; Steven U Walkley; James Pickel; Susan A Slaugenhaupt
Journal:  Am J Hum Genet       Date:  2007-10-02       Impact factor: 11.025

Review 9.  The mucolipin-2 (TRPML2) ion channel: a tissue-specific protein crucial to normal cell function.

Authors:  Math P Cuajungco; Joshua Silva; Ania Habibi; Jessica A Valadez
Journal:  Pflugers Arch       Date:  2015-09-04       Impact factor: 3.657

10.  Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1.

Authors:  Silvia Vergarajauregui; Jose A Martina; Rosa Puertollano
Journal:  J Biol Chem       Date:  2009-10-28       Impact factor: 5.157
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