Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 1
1974 2
1975 1
1976 4
1977 2
1978 4
1979 5
1980 2
1981 1
1982 4
1983 2
1984 1
1985 2
1986 1
1987 1
1989 3
1990 1
1991 3
1992 1
1993 2
1994 1
1995 5
1996 3
1997 1
1998 1
1999 1
2000 2
2001 4
2002 3
2003 4
2004 6
2005 4
2006 3
2007 2
2008 5
2009 10
2010 3
2011 6
2012 2
2013 5
2014 6
2015 5
2016 5
2017 5
2018 9
2019 8
2020 7
2021 3
2022 2
2023 3
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

153 results

Results by year

Filters applied: . Clear all
Page 1
Mucolipidoses Overview: Past, Present, and Future.
Khan SA, Tomatsu SC. Khan SA, et al. Int J Mol Sci. 2020 Sep 17;21(18):6812. doi: 10.3390/ijms21186812. Int J Mol Sci. 2020. PMID: 32957425 Free PMC article. Review.
Mucolipidosis II and III (ML II/III) are caused by a deficiency of uridine-diphosphate N-acetylglucosamine: lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase, EC2.7.8.17), which tags lysosomal enzymes with a mannose 6-phosphate (M6P) ma
Mucolipidosis II and III (ML II/III) are caused by a deficiency of uridine-diphosphate N-acetylglucosamine: lysosomal-enzyme-N-acetyl
Exploration of the Sialic Acid World.
Schauer R, Kamerling JP. Schauer R, et al. Adv Carbohydr Chem Biochem. 2018;75:1-213. doi: 10.1016/bs.accb.2018.09.001. Epub 2018 Nov 28. Adv Carbohydr Chem Biochem. 2018. PMID: 30509400 Free PMC article. Review.
Sialidoses.
Franceschetti S, Canafoglia L. Franceschetti S, et al. Epileptic Disord. 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. Epileptic Disord. 2016. PMID: 27621198 Review.
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysosto …
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. …
From mucolipidosis type IV to Ebola: TRPML and two-pore channels at the crossroads of endo-lysosomal trafficking and disease.
Grimm C, Butz E, Chen CC, Wahl-Schott C, Biel M. Grimm C, et al. Cell Calcium. 2017 Nov;67:148-155. doi: 10.1016/j.ceca.2017.04.003. Epub 2017 Apr 23. Cell Calcium. 2017. PMID: 28457591 Review.
What do lysosomal storage disorders such as mucolipidosis type IV have in common with Ebola, cancer cell migration, or LDL-cholesterol trafficking? ...
What do lysosomal storage disorders such as mucolipidosis type IV have in common with Ebola, cancer cell migration, or …
TRPML1: The Ca(2+)retaker of the lysosome.
Di Paola S, Scotto-Rosato A, Medina DL. Di Paola S, et al. Cell Calcium. 2018 Jan;69:112-121. doi: 10.1016/j.ceca.2017.06.006. Epub 2017 Jun 24. Cell Calcium. 2018. PMID: 28689729 Review.
Among them, mutations in the gene encoding TRPML1 (MCOLN1) cause Mucolipidosis type IV (MLIV), a recessive LSD characterized by neurodegeneration, psychomotor retardation, ophthalmologic defects and achlorhydria. ...
Among them, mutations in the gene encoding TRPML1 (MCOLN1) cause Mucolipidosis type IV (MLIV), a recessive LSD characte …
TRPML3.
Grimm C, Barthmes M, Wahl-Schott C. Grimm C, et al. Handb Exp Pharmacol. 2014;222:659-74. doi: 10.1007/978-3-642-54215-2_26. Handb Exp Pharmacol. 2014. PMID: 24756725 Review.
Loss or mutation of TRPML1 can cause retina degeneration and eventually blindness in mice and men (mucolipidosis type IV). Gain-of-function mutations in TRPML3 cause deafness and circling behavior in mice. ...
Loss or mutation of TRPML1 can cause retina degeneration and eventually blindness in mice and men (mucolipidosis type IV
TRPpathies.
Kiselyov K, Soyombo A, Muallem S. Kiselyov K, et al. J Physiol. 2007 Feb 1;578(Pt 3):641-53. doi: 10.1113/jphysiol.2006.119024. Epub 2006 Nov 30. J Physiol. 2007. PMID: 17138610 Free PMC article. Review.
The list of confirmed 'channelopathies' is growing and several members of the TRP family of ion channels have been implicated in human diseases such as mucolipidosis type IV (MLIV), autosomal dominant polycystic kidney disease (ADPKD), familial focal segmenta …
The list of confirmed 'channelopathies' is growing and several members of the TRP family of ion channels have been implicated in human disea …
Mucolipidosis type IV.
Bach G. Bach G. Mol Genet Metab. 2001 Jul;73(3):197-203. doi: 10.1006/mgme.2001.3195. Mol Genet Metab. 2001. PMID: 11461186 Review.
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmological abnormalities, including corneal opacities, retinal degeneration, and strabismus. ...Over 80% of the MLIV patients are
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder characterized by psychomotor retardation
Mucolipidosis type IV: an update.
Wakabayashi K, Gustafson AM, Sidransky E, Goldin E. Wakabayashi K, et al. Mol Genet Metab. 2011 Nov;104(3):206-13. doi: 10.1016/j.ymgme.2011.06.006. Epub 2011 Jun 16. Mol Genet Metab. 2011. PMID: 21763169 Free PMC article. Review.
Mucolipidosis type IV (MLIV) is a neurodevelopmental as well as neurodegenerative disorder with severe psychomotor developmental delay, progressive visual impairment, and achlorydria. ...
Mucolipidosis type IV (MLIV) is a neurodevelopmental as well as neurodegenerative disorder with severe psychomotor deve
Regulation of TRPML1 function.
Waller-Evans H, Lloyd-Evans E. Waller-Evans H, et al. Biochem Soc Trans. 2015 Jun;43(3):442-6. doi: 10.1042/BST20140311. Biochem Soc Trans. 2015. PMID: 26009188 Review.
TRPML1 is a ubiquitously expressed cation channel found on lysosomes and late endosomes. Mutations in TRPML1 cause mucolipidosis type IV and it has been implicated in Alzheimer's disease and HIV. ...
TRPML1 is a ubiquitously expressed cation channel found on lysosomes and late endosomes. Mutations in TRPML1 cause mucolipidosis t
153 results