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Protein Misfolding Disorders

MedGen UID:
403491
Concept ID:
C2718001
Disease or Syndrome
Synonyms: Disease, Protein Folding; Disease, Protein Misfolding; Disorder, Protein Folding; Disorder, Protein Misfolding; Folding Disease, Protein; Folding Disorder, Protein; Misfolding Disease, Protein; Misfolding Disorder, Protein; Protein Folding Disease; Protein Folding Diseases; Protein Folding Disorder; Protein Folding Disorders; Protein Misfolding Disease; Protein Misfolding Diseases; Protein Misfolding Disorder

Definition

Disorders caused by dysfunctions in PROTEIN FOLDING and degradation or clearance of misfolded proteins. [from MeSH]

Professional guidelines

PubMed

Maurer MS, Soman P, Hernandez A, Garcia-Pavia P, Signorovitch J, Wei LJ, Hanna M, Ruberg FL, Kittleson M, Kazi D, Dorbala S, Hsu K, Lousada I, Adigun R, Dunnmon P, Kelly J, Gillmore J; Amyloidosis Forum Meeting Panelists
Adv Ther 2024 Jul;41(7):2723-2742. Epub 2024 Jun 4 doi: 10.1007/s12325-024-02891-0. PMID: 38833142Free PMC Article
Gopal DM, Ruberg FL, Siddiqi OK
Curr Heart Fail Rep 2019 Oct;16(5):180-188. doi: 10.1007/s11897-019-00436-z. PMID: 31520266
Appleby BS, Lyketsos CG
Expert Opin Pharmacother 2011 Jan;12(1):1-12. Epub 2010 Nov 23 doi: 10.1517/14656566.2010.514903. PMID: 21091283Free PMC Article

Recent clinical studies

Etiology

Tee BL, Longoria Ibarrola EM, Geschwind MD
Neurol Clin 2018 Nov;36(4):865-897. doi: 10.1016/j.ncl.2018.07.005. PMID: 30366560
Dhouafli Z, Cuanalo-Contreras K, Hayouni EA, Mays CE, Soto C, Moreno-Gonzalez I
Cell Mol Life Sci 2018 Oct;75(19):3521-3538. Epub 2018 Jul 20 doi: 10.1007/s00018-018-2872-2. PMID: 30030591Free PMC Article
Oppici E, Dindo M, Conter C, Borri Voltattorni C, Cellini B
Handb Exp Pharmacol 2018;245:313-343. doi: 10.1007/164_2017_59. PMID: 29071511
Martínez G, Duran-Aniotz C, Cabral-Miranda F, Vivar JP, Hetz C
Aging Cell 2017 Aug;16(4):615-623. Epub 2017 Apr 23 doi: 10.1111/acel.12599. PMID: 28436203Free PMC Article
Menzies FM, Moreau K, Rubinsztein DC
Curr Opin Cell Biol 2011 Apr;23(2):190-7. Epub 2010 Nov 17 doi: 10.1016/j.ceb.2010.10.010. PMID: 21087849Free PMC Article

Diagnosis

Maurer MS, Soman P, Hernandez A, Garcia-Pavia P, Signorovitch J, Wei LJ, Hanna M, Ruberg FL, Kittleson M, Kazi D, Dorbala S, Hsu K, Lousada I, Adigun R, Dunnmon P, Kelly J, Gillmore J; Amyloidosis Forum Meeting Panelists
Adv Ther 2024 Jul;41(7):2723-2742. Epub 2024 Jun 4 doi: 10.1007/s12325-024-02891-0. PMID: 38833142Free PMC Article
Basha S, Mukunda DC, Rodrigues J, Gail D'Souza M, Gangadharan G, Pai AR, Mahato KK
Ageing Res Rev 2023 Sep;90:102017. Epub 2023 Jul 17 doi: 10.1016/j.arr.2023.102017. PMID: 37468112
Tee BL, Longoria Ibarrola EM, Geschwind MD
Neurol Clin 2018 Nov;36(4):865-897. doi: 10.1016/j.ncl.2018.07.005. PMID: 30366560
Moore RA, Faris R, Priola SA
Expert Rev Proteomics 2015 Apr;12(2):171-84. doi: 10.1586/14789450.2015.1019481. PMID: 25795148
Klingstedt T, Nilsson KP
Biochim Biophys Acta 2011 Mar;1810(3):286-96. Epub 2010 May 13 doi: 10.1016/j.bbagen.2010.05.003. PMID: 20471455

Therapy

Dash R, Ali MC, Jahan I, Munni YA, Mitra S, Hannan MA, Timalsina B, Oktaviani DF, Choi HJ, Moon IS
Ageing Res Rev 2021 Jan;65:101209. Epub 2020 Nov 9 doi: 10.1016/j.arr.2020.101209. PMID: 33181336
Dhouafli Z, Cuanalo-Contreras K, Hayouni EA, Mays CE, Soto C, Moreno-Gonzalez I
Cell Mol Life Sci 2018 Oct;75(19):3521-3538. Epub 2018 Jul 20 doi: 10.1007/s00018-018-2872-2. PMID: 30030591Free PMC Article
Ribarič S
Molecules 2018 Jan 30;23(2) doi: 10.3390/molecules23020283. PMID: 29385735Free PMC Article
Oppici E, Dindo M, Conter C, Borri Voltattorni C, Cellini B
Handb Exp Pharmacol 2018;245:313-343. doi: 10.1007/164_2017_59. PMID: 29071511
Alexander KM, Singh A, Falk RH
Pharmacol Ther 2017 Dec;180:129-138. Epub 2017 Jun 22 doi: 10.1016/j.pharmthera.2017.06.011. PMID: 28648829Free PMC Article

Prognosis

Maurer MS, Soman P, Hernandez A, Garcia-Pavia P, Signorovitch J, Wei LJ, Hanna M, Ruberg FL, Kittleson M, Kazi D, Dorbala S, Hsu K, Lousada I, Adigun R, Dunnmon P, Kelly J, Gillmore J; Amyloidosis Forum Meeting Panelists
Adv Ther 2024 Jul;41(7):2723-2742. Epub 2024 Jun 4 doi: 10.1007/s12325-024-02891-0. PMID: 38833142Free PMC Article
Risen SJ, Boland SW, Sharma S, Weisman GM, Shirley PM, Latham AS, Hay AJD, Gilberto VS, Hines AD, Brindley S, Brown JM, McGrath S, Chatterjee A, Nagpal P, Moreno JA
ACS Chem Neurosci 2024 Apr 3;15(7):1533-1547. Epub 2024 Mar 20 doi: 10.1021/acschemneuro.3c00846. PMID: 38507813
Stepanchuk AA, Stys PK
ACS Chem Neurosci 2024 Mar 6;15(5):898-908. Epub 2024 Feb 26 doi: 10.1021/acschemneuro.3c00798. PMID: 38407017
Hassan S, White K, Terry C
Biosci Rep 2022 May 27;42(5) doi: 10.1042/BSR20211297. PMID: 35475576Free PMC Article
Liberski PP
Parkinsonism Relat Disord 2014 Jan;20 Suppl 1:S80-4. doi: 10.1016/S1353-8020(13)70021-X. PMID: 24262195

Clinical prediction guides

Kabir MT, Uddin MS, Abdeen A, Ashraf GM, Perveen A, Hafeez A, Bin-Jumah MN, Abdel-Daim MM
Curr Top Med Chem 2020;20(23):2025-2043. doi: 10.2174/1568026620666200618114924. PMID: 32552649
Fernandes V, Choudhary M, Kumar A, Singh SB
Pharmacol Res 2020 Sep;159:104948. Epub 2020 May 22 doi: 10.1016/j.phrs.2020.104948. PMID: 32450345
Liberski PP
Parkinsonism Relat Disord 2014 Jan;20 Suppl 1:S80-4. doi: 10.1016/S1353-8020(13)70021-X. PMID: 24262195
Colbert RA, DeLay ML, Layh-Schmitt G, Sowders DP
Adv Exp Med Biol 2009;649:217-34. doi: 10.1007/978-1-4419-0298-6_16. PMID: 19731632
Colbert RA, DeLay ML, Layh-Schmitt G, Sowders DP
Prion 2009 Jan-Mar;3(1):15-26. Epub 2009 Jan 3 doi: 10.4161/pri.3.1.8072. PMID: 19363299Free PMC Article

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