Current concepts in the neuropathogenesis of mucolipidosis type IV

Journal of Neurochemistry
Lauren C Boudewyn, Steven U Walkley

Abstract

Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan. MLIV results from mutations in the gene MCOLN1 encoding the transient receptor potential channel mucolipin-1. It is an ultra-rare disease and is currently known to affect just over 100 diagnosed individuals. The last decade has provided a wealth of research focused on understanding the role of the enigmatic mucolipin-1 protein in cell and brain function and how its absence causes disease. This review explores our current understanding of the mucolipin-1 protein in relation to neuropathogenesis in MLIV and describes recent findings implicating mucolipin-1's important role in mechanistic target of rapamycin and TFEB (transcription factor EB) signaling feedback loops as well as in the function of the greater endosomal/lysosomal system. In addition to addressing the vital role of mucolipin-1 in the brain, we also report new data on the question of whether haploinsufficiency as would be anticipated in MCOLN1 heterozygotes is associated with any evidence of neuron dysfun...Continue Reading

References

Dec 1, 1992·Ophthalmic Paediatrics and Genetics·I CasteelsG Bach
Dec 1, 1991·American Journal of Medical Genetics·D ChitayatS Carpenter
Jan 1, 1988·Neuroscience·D W ChoiJ Koh
Jan 1, 1970·Humangenetik·J W Spranger, H R Wiedemann
Sep 1, 1994·Journal of Neurochemistry·M GerlachM B Youdim
Jan 1, 1996·Journal of Inherited Metabolic Disease·D E BrownC A Just
Jan 1, 1997·Neurobiology of Disease·M P Cuajungco, G J Lees
Mar 14, 1998·Proceedings of the National Academy of Sciences of the United States of America·R SchiffmannE Goldin
Jul 29, 1998·Electroencephalography and Clinical Neurophysiology·H SiegelS Sato
Aug 26, 1998·Neurology·K P FreiR Schiffmann
Jun 3, 1999·European Journal of Human Genetics : EJHG·A Raas-RothschildG Bach
Aug 12, 1999·American Journal of Human Genetics·S A SlaugenhauptJ F Gusella
Mar 11, 2000·The Journal of Clinical Investigation·A Raas-RothschildW M Canfield
Sep 6, 2000·Nature Genetics·R BargalG Bach
Jun 5, 2001·Nature Reviews. Neuroscience·D E ClaphamC Strübing
Jul 20, 2001·Molecular Genetics and Metabolism·G Bach
Feb 15, 2002·American Journal of Human Genetics·Lisa EdelmannRuth Kornreich
Jul 20, 2002·Current Molecular Medicine·Susan A Slaugenhaupt
Aug 17, 2002·Neurology·G AltarescuR Schiffmann
Jan 16, 2003·The Journal of Comparative Neurology·Justyna R SarnaRichard Hawkes
May 2, 2003·Proceedings of the National Academy of Sciences of the United States of America·Stefano L SensiJohn H Weiss
Jun 23, 2004·Seminars in Cell & Developmental Biology·Elina Ikonen, Maarit Hölttä-Vuori
Jul 3, 2004·Nature Reviews. Molecular Cell Biology·Anthony H Futerman, Gerrit van Meer
Aug 18, 2004·Genes & Development·Nissim Hay, Nahum Sonenberg
Sep 1, 2004·Biochemical and Biophysical Research Communications·Janice M LaPlantePeter M Vassilev
Dec 14, 2004·Journal of Medical Genetics·O Goker-AlpanE Sidransky
Dec 15, 2004·Neurology·Keith A JosephsNoralane M Lindor
Feb 17, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Orit NeudorferEdwin H Kolodny
Feb 25, 2005·Science's STKE : Signal Transduction Knowledge Environment·Craig Montell
May 21, 2005·Physical Review. E, Statistical, Nonlinear, and Soft Matter Physics·M E CuneoJ A Torres

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Citations

Jan 31, 2019·Journal of Neurochemistry·Tammy Kielian
Feb 3, 2019·Journal of Lipid Research·Fabrizio VaccaJean Gruenberg
Jun 25, 2020·Science Signaling·Pratish ThakoreScott Earley
Apr 11, 2020·International Journal of Molecular Sciences·Bernadette Breiden, Konrad Sandhoff
Jul 18, 2020·International Journal of Molecular Sciences·Shani BlumenreichAnthony H Futerman
Dec 20, 2019·Traffic·Jean Gruenberg
Dec 31, 2019·Journal of Neuroinflammation·Antony CougnouxForbes D Porter
Jul 2, 2020·International Journal of Molecular Sciences·Aleksandra Jezela-StanekKarolina M Stepien
Jan 18, 2021·Neuromuscular Disorders : NMD·Alberto A ZambonUNKNOWN Genomics England Research Consortium
Mar 5, 2021·Autophagy·Ruoxi ZhangDaolin Tang
Mar 16, 2021·Frontiers in Cell and Developmental Biology·Amy B P RibetNathan J Pavlos
May 12, 2020·Biochimica Et Biophysica Acta. Biomembranes·Marjan Huizing, William A Gahl

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