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Xu, R. Mucolipidosis Type IV. Encyclopedia. Available online: https://encyclopedia.pub/entry/4308 (accessed on 28 September 2026).
Xu R. Mucolipidosis Type IV. Encyclopedia. Available at: https://encyclopedia.pub/entry/4308. Accessed September 28, 2026.
Xu, Rita. "Mucolipidosis Type IV" Encyclopedia, https://encyclopedia.pub/entry/4308 (accessed September 28, 2026).
Xu, R. (2020, December 23). Mucolipidosis Type IV. In Encyclopedia. https://encyclopedia.pub/entry/4308
Xu, Rita. "Mucolipidosis Type IV." Encyclopedia. Web. 23 December, 2020.
Mucolipidosis Type IV
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/mucolipidosis-type-iv

Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV.

genetic conditions

References

  1. 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. The neurogenetics of mucolipidosis type IV. Neurology. 2002 Aug13;59(3):306-13.
  2. Dong XP, Cheng X, Mills E, Delling M, Wang F, Kurz T, Xu H. The type IVmucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.Nature. 2008 Oct 16;455(7215):992-6. doi: 10.1038/nature07311.
  3. Miedel MT, Rbaibi Y, Guerriero CJ, Colletti G, Weixel KM, Weisz OA, KiselyovK. Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. J Exp Med. 2008 Jun 9;205(6):1477-90. doi:10.1084/jem.20072194.
  4. Puertollano R, Kiselyov K. TRPMLs: in sickness and in health. Am J PhysiolRenal Physiol. 2009 Jun;296(6):F1245-54. doi: 10.1152/ajprenal.90522.2008.
  5. Ruivo R, Anne C, Sagné C, Gasnier B. Molecular and cellular basis of lysosomaltransmembrane protein dysfunction. Biochim Biophys Acta. 2009 Apr;1793(4):636-49.doi: 10.1016/j.bbamcr.2008.12.008.
  6. Schiffmann R, Grishchuk Y, Goldin E. Mucolipidosis IV. 2005 Jan 28 [updated2015 Jul 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1214/
  7. Venugopal B, Mesires NT, Kennedy JC, Curcio-Morelli C, Laplante JM, Dice JF,Slaugenhaupt SA. Chaperone-mediated autophagy is defective in mucolipidosis type IV. J Cell Physiol. 2009 May;219(2):344-53. doi: 10.1002/jcp.21676.
  8. Vergarajauregui S, Connelly PS, Daniels MP, Puertollano R. Autophagicdysfunction in mucolipidosis type IV patients. Hum Mol Genet. 2008 Sep1;17(17):2723-37. doi: 10.1093/hmg/ddn174.
  9. Vergarajauregui S, Oberdick R, Kiselyov K, Puertollano R. Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation. Biochem J.2008 Mar 1;410(2):417-25.
  10. Vergarajauregui S, Puertollano R. Mucolipidosis type IV: the importance offunctional lysosomes for efficient autophagy. Autophagy. 2008 Aug;4(6):832-4.
  11. Wakabayashi K, Gustafson AM, Sidransky E, Goldin E. Mucolipidosis type IV: an update. Mol Genet Metab. 2011 Nov;104(3):206-13. doi:10.1016/j.ymgme.2011.06.006.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 746
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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