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Disorder of manganese transport

MedGen UID:
1843191
•Concept ID:
C5681032
•
Disease or Syndrome
Synonym: disorder of manganese transport
 
Monarch Initiative: MONDO:0017766
Orphanet: ORPHA309851

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of manganese transport

Professional guidelines

PubMed

The Association of Essential Metals with APOE Genotype in Alzheimer's Disease.
Babić Leko M, Jurasović J, Nikolac Perković M, Španić E, Sekovanić A, Orct T, Lukinović Škudar V, Bačić Baronica K, Kiđemet-Piskač S, Vogrinc Ž, Pivac N, Borovečki F, Hof PR, Šimić G
J Alzheimers Dis 2021;82(2):661-672. doi: 10.3233/JAD-210158. PMID: 34057084
Hepatic encephalopathy: from pathophysiology to treatment.
Mas A
Digestion 2006;73 Suppl 1:86-93. Epub 2006 Feb 8 doi: 10.1159/000089783. PMID: 16498256
Role of free radicals in the neurodegenerative diseases: therapeutic implications for antioxidant treatment.
Halliwell B
Drugs Aging 2001;18(9):685-716. doi: 10.2165/00002512-200118090-00004. PMID: 11599635

Recent clinical studies

Etiology

Manganese transport in mammals by zinc transporter family proteins, ZNT and ZIP.
Fujishiro H, Kambe T
J Pharmacol Sci 2022 Jan;148(1):125-133. Epub 2021 Nov 2 doi: 10.1016/j.jphs.2021.10.011. PMID: 34924116
Role of excretion in manganese homeostasis and neurotoxicity: a historical perspective.
Gurol KC, Aschner M, Smith DR, Mukhopadhyay S
Am J Physiol Gastrointest Liver Physiol 2022 Jan 1;322(1):G79-G92. Epub 2021 Nov 17 doi: 10.1152/ajpgi.00299.2021. PMID: 34786983Free PMC Article
Wilson disease.
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Genetic Disorders of Manganese Metabolism.
Anagianni S, Tuschl K
Curr Neurol Neurosci Rep 2019 May 14;19(6):33. doi: 10.1007/s11910-019-0942-y. PMID: 31089831Free PMC Article
Role of advanced glycation end products in cellular signaling.
Ott C, Jacobs K, Haucke E, Navarrete Santos A, Grune T, Simm A
Redox Biol 2014;2:411-29. Epub 2014 Jan 9 doi: 10.1016/j.redox.2013.12.016. PMID: 24624331Free PMC Article

Diagnosis

Wilson disease.
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Parkinsonism in diseases predominantly presenting with dystonia.
Di Fonzo A, Franco G, Barone P, Erro R
Int Rev Neurobiol 2019;149:307-326. Epub 2019 Nov 21 doi: 10.1016/bs.irn.2019.10.007. PMID: 31779818
Genetic Disorders of Manganese Metabolism.
Anagianni S, Tuschl K
Curr Neurol Neurosci Rep 2019 May 14;19(6):33. doi: 10.1007/s11910-019-0942-y. PMID: 31089831Free PMC Article
Manganese-induced turnover of TMEM165.
Potelle S, Dulary E, Climer L, Duvet S, Morelle W, Vicogne D, Lebredonchel E, Houdou M, Spriet C, Krzewinski-Recchi MA, Peanne R, Klein A, de Bettignies G, Morsomme P, Matthijs G, Marquardt T, Lupashin V, Foulquier F
Biochem J 2017 Apr 19;474(9):1481-1493. doi: 10.1042/BCJ20160910. PMID: 28270545Free PMC Article
Disorders of heavy metals.
Woimant F, Trocello JM
Handb Clin Neurol 2014;120:851-64. doi: 10.1016/B978-0-7020-4087-0.00057-7. PMID: 24365357

Therapy

Manganese transport in mammals by zinc transporter family proteins, ZNT and ZIP.
Fujishiro H, Kambe T
J Pharmacol Sci 2022 Jan;148(1):125-133. Epub 2021 Nov 2 doi: 10.1016/j.jphs.2021.10.011. PMID: 34924116
Wilson disease.
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Tardive dyskinesia: Who gets it and why.
Frei K
Parkinsonism Relat Disord 2019 Feb;59:151-154. Epub 2018 Nov 15 doi: 10.1016/j.parkreldis.2018.11.017. PMID: 30522959
Neurotoxicity of Metal Mixtures.
Andrade VM, Aschner M, Marreilha Dos Santos AP
Adv Neurobiol 2017;18:227-265. doi: 10.1007/978-3-319-60189-2_12. PMID: 28889271
Role of advanced glycation end products in cellular signaling.
Ott C, Jacobs K, Haucke E, Navarrete Santos A, Grune T, Simm A
Redox Biol 2014;2:411-29. Epub 2014 Jan 9 doi: 10.1016/j.redox.2013.12.016. PMID: 24624331Free PMC Article

Prognosis

Effects of individual amino acid mutations of zinc transporter ZIP8 on manganese- and cadmium-transporting activity.
Fujishiro H, Miyamoto S, Sumi D, Kambe T, Himeno S
Biochem Biophys Res Commun 2022 Aug 6;616:26-32. Epub 2022 May 20 doi: 10.1016/j.bbrc.2022.05.068. PMID: 35636252
Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
Bonaventura E, Barone R, Sturiale L, Pasquariello R, Alessandrì MG, Pinto AM, Renieri A, Panteghini C, Garavaglia B, Cioni G, Battini R
Orphanet J Rare Dis 2021 Jul 10;16(1):307. doi: 10.1186/s13023-021-01941-y. PMID: 34246313Free PMC Article
Tardive dyskinesia: Who gets it and why.
Frei K
Parkinsonism Relat Disord 2019 Feb;59:151-154. Epub 2018 Nov 15 doi: 10.1016/j.parkreldis.2018.11.017. PMID: 30522959
Intersection of phosphate transport, oxidative stress and TOR signalling in Candida albicans virulence.
Liu NN, Uppuluri P, Broggi A, Besold A, Ryman K, Kambara H, Solis N, Lorenz V, Qi W, Acosta-Zaldívar M, Emami SN, Bao B, An D, Bonilla FA, Sola-Visner M, Filler SG, Luo HR, Engström Y, Ljungdahl PO, Culotta VC, Zanoni I, Lopez-Ribot JL, Köhler JR
PLoS Pathog 2018 Jul;14(7):e1007076. Epub 2018 Jul 30 doi: 10.1371/journal.ppat.1007076. PMID: 30059535Free PMC Article
The SLC39 family of metal ion transporters.
Eide DJ
Pflugers Arch 2004 Feb;447(5):796-800. Epub 2003 May 14 doi: 10.1007/s00424-003-1074-3. PMID: 12748861

Clinical prediction guides

Role of excretion in manganese homeostasis and neurotoxicity: a historical perspective.
Gurol KC, Aschner M, Smith DR, Mukhopadhyay S
Am J Physiol Gastrointest Liver Physiol 2022 Jan 1;322(1):G79-G92. Epub 2021 Nov 17 doi: 10.1152/ajpgi.00299.2021. PMID: 34786983Free PMC Article
Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
Bonaventura E, Barone R, Sturiale L, Pasquariello R, Alessandrì MG, Pinto AM, Renieri A, Panteghini C, Garavaglia B, Cioni G, Battini R
Orphanet J Rare Dis 2021 Jul 10;16(1):307. doi: 10.1186/s13023-021-01941-y. PMID: 34246313Free PMC Article
Tardive dyskinesia: Who gets it and why.
Frei K
Parkinsonism Relat Disord 2019 Feb;59:151-154. Epub 2018 Nov 15 doi: 10.1016/j.parkreldis.2018.11.017. PMID: 30522959
The prion-ZIP connection: From cousins to partners in iron uptake.
Singh N, Asthana A, Baksi S, Desai V, Haldar S, Hari S, Tripathi AK
Prion 2015;9(6):420-8. doi: 10.1080/19336896.2015.1118602. PMID: 26689487Free PMC Article
Soils and geomedicine.
Steinnes E
Environ Geochem Health 2009 Oct;31(5):523-35. doi: 10.1007/s10653-009-9257-2. PMID: 19350398

Recent systematic reviews

Systematic and state-of the science review of the role of environmental factors in Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig's Disease.
Newell ME, Adhikari S, Halden RU
Sci Total Environ 2022 Apr 15;817:152504. Epub 2021 Dec 28 doi: 10.1016/j.scitotenv.2021.152504. PMID: 34971691

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