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Proteostasis deficiencies

MedGen UID:: 403490
•Concept ID:: C2718000
•: Disease or Syndrome

Synonyms:	Deficiency, Proteostasis; Dysfunction, Proteostasis; Proteinopathies; Proteinopathy; Proteostasis Deficiencies; Proteostasis Deficiency; Proteostasis Dysfunction; Proteostasis Dysfunctions

Monarch Initiative:	MONDO:0021179

Definition

Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVProteostasis deficiencies

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Non-Neoplastic Disorder
      - Non-Neoplastic Disorder by Special Category
        Metabolic disease
        Proteostasis deficiencies
        Amyloidosis
        AA amyloidosis
        AApoAIV amyloidosis
        AH amyloidosis
        AL amyloidosis
        Primary localized amyloidosis
        Primary systemic amyloidosis
        Recurrent AL Amyloidosis
        Recurrent Primary Amyloidosis
        Refractory AL Amyloidosis
        Refractory Primary Amyloidosis
        ALECT2 amyloidosis
        Amyloid goiter
        Amyloidosis of peripheral nerves
        Cardiac amyloidosis
        Monoclonal light chain cardiac amyloidosis
        Transthyretin Amyloid Cardiomyopathy
        Transthyretin cardiac amyloidosis
        Cerebral amyloid angiopathy
        Cerebral amyloid angiopathy, APP-related
        ITM2B amyloidosis
        Conjunctival amyloidosis
        Corneal amyloidosis
        Cutaneous amyloidosis
        Cutaneous lichen amyloidosis
        Cutaneous macular amyloidosis
        Cutaneous nodular amyloidosis
        Familial visceral amyloidosis, Ostertag type
        AApoAI amyloidosis
        AFib amyloidosis
        ALys amyloidosis
        Apolipoprotein A-II amyloidosis
        Finnish type amyloidosis
        Generalized amyloid deposition
        Hereditary amyloidosis
        Familial amyloid neuropathy
        Hereditary cerebral hemorrhage with amyloidosis
        Variant ABeta2M amyloidosis
        Polyneuropathy due to amyloidosis
        Positive serum amyloid P scintigraphy
        Pulmonary amyloidosis
        Secondary Amyloidosis
        Wild type ATTR amyloidosis
        Synucleinopathy
        Lewy body dementia
        Multiple system atrophy
        Multiple system atrophy, cerebellar type
        Multiple system atrophy, parkinsonian type
        Olivopontocerebellar atrophy
        Shy Drager Syndrome
        Striatonigral degeneration
        Parkinson disease
        Autosomal dominant Parkinson disease 1
        Autosomal dominant Parkinson disease 4
        Autosomal dominant Parkinson disease 8
        Autosomal recessive early-onset Parkinson disease 6
        Autosomal recessive early-onset Parkinson disease 7
        Autosomal recessive juvenile Parkinson disease 2
        Autosomal recessive Parkinson disease 14
        Juvenile paralysis agitans of Hunt
        Kufor-Rakeb syndrome
        Parkinson disease 6
        Parkinson disease 10
        Parkinson disease 11, autosomal dominant, susceptibility to
        Parkinson disease 12
        Parkinson disease 13, autosomal dominant, susceptibility to
        Parkinson disease 16
        Parkinson disease 17
        Parkinson disease 3, autosomal dominant
        Parkinson disease 5, autosomal dominant, susceptibility to
        Parkinson disease, late-onset
        Parkinson disease, mitochondrial
        Parkinsonian-pyramidal syndrome
        TDP-43 proteinopathy
        Amyotrophic lateral sclerosis
        Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia
        Amyotrophic lateral sclerosis type 1
        Amyotrophic lateral sclerosis type 3
        Amyotrophic lateral sclerosis type 4
        Amyotrophic lateral sclerosis type 6
        Amyotrophic lateral sclerosis type 7
        Amyotrophic lateral sclerosis type 8
        Amyotrophic lateral sclerosis type 9
        Amyotrophic lateral sclerosis type 10
        Amyotrophic lateral sclerosis type 11
        Amyotrophic lateral sclerosis type 21
        Amyotrophic lateral sclerosis type 23
        Juvenile amyotrophic lateral sclerosis
        Progressive muscular atrophy
        Degenerations, Frontotemporal Lobar
        Frontotemporal dementia
        Primary progressive non fluent aphasia

Professional guidelines

PubMed

Advances in molecular pathology, diagnosis, and treatment of amyotrophic lateral sclerosis.

Ilieva H, Vullaganti M, Kwan J
BMJ 2023 Oct 27;383:e075037. doi: 10.1136/bmj-2023-075037. PMID: 37890889 Free PMC Article

Diagnosis and Treatment of AL Amyloidosis.

Palladini G, Milani P
Drugs 2023 Feb;83(3):203-216. Epub 2023 Jan 18 doi: 10.1007/s40265-022-01830-z. PMID: 36652193

Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases.

Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853 Free PMC Article

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Recent clinical studies

Etiology

How Does the Ribosome Fold the Proteome?

Cassaignau AME, Cabrita LD, Christodoulou J
Annu Rev Biochem 2020 Jun 20;89:389-415. doi: 10.1146/annurev-biochem-062917-012226. PMID: 32569518

Autophagy dysfunction in autoinflammatory diseases.

Hua Y, Shen M, McDonald C, Yao Q
J Autoimmun 2018 Mar;88:11-20. Epub 2017 Nov 3 doi: 10.1016/j.jaut.2017.10.012. PMID: 29108670 Free PMC Article

Folding Defects Leading to Primary Hyperoxaluria.

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

In vivo aspects of protein folding and quality control.

Balchin D, Hayer-Hartl M, Hartl FU
Science 2016 Jul 1;353(6294):aac4354. doi: 10.1126/science.aac4354. PMID: 27365453

Glaucoma as a neurodegenerative disease.

Danesh-Meyer HV, Levin LA
J Neuroophthalmol 2015 Sep;35 Suppl 1:S22-8. doi: 10.1097/WNO.0000000000000293. PMID: 26274833

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Diagnosis

Mitochondrial Dysfunction, Protein Misfolding and Neuroinflammation in Parkinson's Disease: Roads to Biomarker Discovery.

Picca A, Guerra F, Calvani R, Romano R, Coelho-Júnior HJ, Bucci C, Marzetti E
Biomolecules 2021 Oct 13;11(10) doi: 10.3390/biom11101508. PMID: 34680141 Free PMC Article

Learnings from Protein Folding Projected onto Amyloid Misfolding.

Sreenivasan S, Narayan M
ACS Chem Neurosci 2019 Sep 18;10(9):3911-3913. Epub 2019 Aug 28 doi: 10.1021/acschemneuro.9b00445. PMID: 31456389

Protein misfolding diseases: Prospects of pharmacological treatment.

Gámez A, Yuste-Checa P, Brasil S, Briso-Montiano Á, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B
Clin Genet 2018 Mar;93(3):450-458. Epub 2017 Dec 4 doi: 10.1111/cge.13088. PMID: 28671287

Protein aggregation, misfolding and consequential human neurodegenerative diseases.

Sami N, Rahman S, Kumar V, Zaidi S, Islam A, Ali S, Ahmad F, Hassan MI
Int J Neurosci 2017 Nov;127(11):1047-1057. Epub 2017 Feb 8 doi: 10.1080/00207454.2017.1286339. PMID: 28110595

Glaucoma as a neurodegenerative disease.

Danesh-Meyer HV, Levin LA
J Neuroophthalmol 2015 Sep;35 Suppl 1:S22-8. doi: 10.1097/WNO.0000000000000293. PMID: 26274833

See all (103)

Therapy

Environmental factors modulating protein conformations and their role in protein aggregation diseases.

Devi S, Chaturvedi M, Fatima S, Priya S
Toxicology 2022 Jan 15;465:153049. Epub 2021 Nov 21 doi: 10.1016/j.tox.2021.153049. PMID: 34818560

Folding Defects Leading to Primary Hyperoxaluria.

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

Pharmacological Chaperones: Beyond Conformational Disorders.

Leidenheimer NJ
Handb Exp Pharmacol 2018;245:135-153. doi: 10.1007/164_2017_68. PMID: 29071508

Protein misfolding diseases: Prospects of pharmacological treatment.

Gámez A, Yuste-Checa P, Brasil S, Briso-Montiano Á, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B
Clin Genet 2018 Mar;93(3):450-458. Epub 2017 Dec 4 doi: 10.1111/cge.13088. PMID: 28671287

Aptamer and its applications in neurodegenerative diseases.

Qu J, Yu S, Zheng Y, Zheng Y, Yang H, Zhang J
Cell Mol Life Sci 2017 Feb;74(4):683-695. Epub 2016 Aug 25 doi: 10.1007/s00018-016-2345-4. PMID: 27563707 Free PMC Article

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Prognosis

The shift to a proteinopenia paradigm in neurodegeneration.

Ezzat K, Sturchio A, Espay AJ
Handb Clin Neurol 2023;193:23-32. doi: 10.1016/B978-0-323-85555-6.00001-1. PMID: 36803814

Mitochondrial Dysfunction, Protein Misfolding and Neuroinflammation in Parkinson's Disease: Roads to Biomarker Discovery.

Picca A, Guerra F, Calvani R, Romano R, Coelho-Júnior HJ, Bucci C, Marzetti E
Biomolecules 2021 Oct 13;11(10) doi: 10.3390/biom11101508. PMID: 34680141 Free PMC Article

The Misfolding of Proteins.

Argyrou A
Adv Exp Med Biol 2020;1195:249-254. doi: 10.1007/978-3-030-32633-3_33. PMID: 32468483

What amyloid ligands can tell us about molecular polymorphism and disease.

LeVine H 3rd, Walker LC
Neurobiol Aging 2016 Jun;42:205-12. Epub 2016 Mar 24 doi: 10.1016/j.neurobiolaging.2016.03.019. PMID: 27143437 Free PMC Article

Prion, prionoids and infectious amyloid.

Liberski PP
Parkinsonism Relat Disord 2014 Jan;20 Suppl 1:S80-4. doi: 10.1016/S1353-8020(13)70021-X. PMID: 24262195

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Clinical prediction guides

Mitochondrial Dysfunction, Protein Misfolding and Neuroinflammation in Parkinson's Disease: Roads to Biomarker Discovery.

Picca A, Guerra F, Calvani R, Romano R, Coelho-Júnior HJ, Bucci C, Marzetti E
Biomolecules 2021 Oct 13;11(10) doi: 10.3390/biom11101508. PMID: 34680141 Free PMC Article

Methods to study the structure of misfolded protein states in systemic amyloidosis.

Fändrich M, Schmidt M
Biochem Soc Trans 2021 Apr 30;49(2):977-985. doi: 10.1042/BST20201022. PMID: 33929491

Nanochaperone-Based Strategies to Control Protein Aggregation Linked to Conformational Diseases.

Caballero AB, Gamez P
Angew Chem Int Ed Engl 2021 Jan 4;60(1):41-52. Epub 2020 Aug 20 doi: 10.1002/anie.202007924. PMID: 32706460

The Misfolding of Proteins.

Argyrou A
Adv Exp Med Biol 2020;1195:249-254. doi: 10.1007/978-3-030-32633-3_33. PMID: 32468483

Prion-like features of misfolded Aβ and tau aggregates.

Morales R, Callegari K, Soto C
Virus Res 2015 Sep 2;207:106-12. Epub 2015 Jan 6 doi: 10.1016/j.virusres.2014.12.031. PMID: 25575736

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