242 related articles for article (PubMed ID: 21763169)
1. Mucolipidosis type IV: an update.
Wakabayashi K; Gustafson AM; Sidransky E; Goldin E
Mol Genet Metab; 2011 Nov; 104(3):206-13. PubMed ID: 21763169
[TBL] [Abstract][Full Text] [Related]
2. The molecular basis of mucolipidosis type IV.
Slaugenhaupt SA
Curr Mol Med; 2002 Aug; 2(5):445-50. PubMed ID: 12125810
[TBL] [Abstract][Full Text] [Related]
3. Mucolipidosis type IV.
Bach G
Mol Genet Metab; 2001 Jul; 73(3):197-203. PubMed ID: 11461186
[TBL] [Abstract][Full Text] [Related]
4. Mucolipin 1: endocytosis and cation channel--a review.
Bach G
Pflugers Arch; 2005 Oct; 451(1):313-7. PubMed ID: 15570434
[TBL] [Abstract][Full Text] [Related]
5. Mucolipidosis Type IV in Omani Families with a Novel
Al-Alawi B; Harikrishna B; Al-Thihli K; Al Zuhabi S; Ganesh A; Al Hashami Z; Al Dhamhmani Z; Zadjali R; Al Riyami NB; Zadjali F
Genes (Basel); 2022 Jan; 13(2):. PubMed ID: 35205297
[TBL] [Abstract][Full Text] [Related]
6. The neurogenetics of mucolipidosis type IV.
Altarescu G; Sun M; Moore DF; Smith JA; Wiggs EA; Solomon BI; Patronas NJ; Frei KP; Gupta S; Kaneski CR; Quarrell OW; Slaugenhaupt SA; Goldin E; Schiffmann R
Neurology; 2002 Aug; 59(3):306-13. PubMed ID: 12182165
[TBL] [Abstract][Full Text] [Related]
7. Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV.
Venugopal B; Browning MF; Curcio-Morelli C; Varro A; Michaud N; Nanthakumar N; Walkley SU; Pickel J; Slaugenhaupt SA
Am J Hum Genet; 2007 Nov; 81(5):1070-83. PubMed ID: 17924347
[TBL] [Abstract][Full Text] [Related]
8. A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
Mirabelli-Badenier M; Severino M; Tappino B; Tortora D; Camia F; Zanaboni C; Brera F; Priolo E; Rossi A; Biancheri R; Di Rocco M; Filocamo M
Metab Brain Dis; 2015 Jun; 30(3):681-6. PubMed ID: 25156245
[TBL] [Abstract][Full Text] [Related]
9. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
Bargal R; Avidan N; Olender T; Ben Asher E; Zeigler M; Raas-Rothschild A; Frumkin A; Ben-Yoseph O; Friedlender Y; Lancet D; Bach G
Hum Mutat; 2001 May; 17(5):397-402. PubMed ID: 11317355
[TBL] [Abstract][Full Text] [Related]
10. Novel degenerative and developmental defects in a zebrafish model of mucolipidosis type IV.
Li H; Pei W; Vergarajauregui S; Zerfas PM; Raben N; Burgess SM; Puertollano R
Hum Mol Genet; 2017 Jul; 26(14):2701-2718. PubMed ID: 28449103
[TBL] [Abstract][Full Text] [Related]
11. N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.
Boudewyn LC; Sikora J; Kuchar L; Ledvinova J; Grishchuk Y; Wang SL; Dobrenis K; Walkley SU
Neurobiol Dis; 2017 Sep; 105():257-270. PubMed ID: 28610891
[TBL] [Abstract][Full Text] [Related]
12. Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV.
Mepyans M; Andrzejczuk L; Sosa J; Smith S; Herron S; DeRosa S; Slaugenhaupt SA; Misko A; Grishchuk Y; Kiselyov K
Dis Model Mech; 2020 Jul; 13(7):. PubMed ID: 32586947
[TBL] [Abstract][Full Text] [Related]
13. Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV.
Grishchuk Y; Peña KA; Coblentz J; King VE; Humphrey DM; Wang SL; Kiselyov KI; Slaugenhaupt SA
Dis Model Mech; 2015 Dec; 8(12):1591-601. PubMed ID: 26398942
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 19117012
[TBL] [Abstract][Full Text] [Related]
15. Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum.
Yamaguchi N; Ban K; Suzuki A; Nakamura Y; Kato K; Muramatsu H; Okuno Y; Hattori A; Kaname T; Takahashi Y; Saitoh S
Brain Dev; 2020 Mar; 42(3):298-301. PubMed ID: 31899079
[TBL] [Abstract][Full Text] [Related]
16. MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.
DeRosa S; Salani M; Smith S; Sangster M; Miller-Browne V; Wassmer S; Xiao R; Vandenberghe L; Slaugenhaupt S; Misko A; Grishchuk Y
Hum Mol Genet; 2021 May; 30(10):908-922. PubMed ID: 33822942
[TBL] [Abstract][Full Text] [Related]
17. Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.
Jezela-Stanek A; Ciara E; Stepien KM
Int J Mol Sci; 2020 Jun; 21(12):. PubMed ID: 32604955
[TBL] [Abstract][Full Text] [Related]
18. Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.
Shiihara T; Watanabe M; Moriyama K; Maruyama Y; Kikuchi A; Arai-Ichinoi N; Uematsu M; Sameshima K
Brain Dev; 2016 Sep; 38(8):763-7. PubMed ID: 26926398
[TBL] [Abstract][Full Text] [Related]
19. Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model†.
Wang Z; El Zowalaty AE; Li Y; Andersen CL; Ye X
Biol Reprod; 2019 Oct; 101(4):782-790. PubMed ID: 31317194
[TBL] [Abstract][Full Text] [Related]
20. Progress in elucidating pathophysiology of mucolipidosis IV.
Misko A; Wood L; Kiselyov K; Slaugenhaupt S; Grishchuk Y
Neurosci Lett; 2021 Jun; 755():135944. PubMed ID: 33965501
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
