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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
        Amyloidoma
        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
        Cutaneous amyloidosis
        Amyloidosis cutis dyschromia
        Cutaneous lichen amyloidosis
        Cutaneous macular amyloidosis
        Familial primary localized cutaneous amyloidosis
        Lichen amyloidosis
        Macular amyloidosis
        Nodular cutaneous amyloidosis
        Familial visceral amyloidosis, Ostertag type
        AApoAI amyloidosis
        AFib amyloidosis
        ALys amyloidosis
        Apolipoprotein A-II amyloidosis
        Generalized amyloid deposition
        Hereditary amyloidosis
        Familial amyloid polyneuropathy
        Hereditary cerebral hemorrhage with amyloidosis
        Meretoja syndrome
        Variant ABeta2M amyloidosis
        Lattice corneal dystrophy Type III
        Polyneuropathy due to amyloidosis
        Pulmonary amyloidosis
        Secondary Amyloidosis
        Soft tissue amyloid neoplasm
        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

Immunoglobulin light chain amyloidosis: 2022 update on diagnosis, prognosis, and treatment.

Gertz MA
Am J Hematol 2022 Jun 1;97(6):818-829. Epub 2022 Apr 25 doi: 10.1002/ajh.26569. PMID: 35429180

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

Chronic inflammatory demyelinating polyradiculoneuropathy-Diagnostic pitfalls and treatment approach.

Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902

See all (1680)

Recent clinical studies

Etiology

Introduction to Current Progress in Advanced Research on Prions.

Onodera T, Sakudo A
Curr Issues Mol Biol 2020;36:63-66. Epub 2019 Sep 27 doi: 10.21775/cimb.036.063. PMID: 31559970

Targeting defective proteostasis in the collagenopathies.

Wong MY, Shoulders MD
Curr Opin Chem Biol 2019 Jun;50:80-88. Epub 2019 Apr 24 doi: 10.1016/j.cbpa.2019.02.021. PMID: 31028939 Free PMC Article

Parkinson's disease from the gut.

Liddle RA
Brain Res 2018 Aug 15;1693(Pt B):201-206. Epub 2018 Jan 31 doi: 10.1016/j.brainres.2018.01.010. PMID: 29360467 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

See all (95)

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

Primary Amyloidosis of the Genitourinary Tract.

Al-Obaidy KI, Grignon DJ
Arch Pathol Lab Med 2021 Jun 1;145(6):699-703. doi: 10.5858/arpa.2020-0102-RA. PMID: 32383975

Proteomic analysis of protein homeostasis and aggregation.

Laskowska E, Kuczyńska-Wiśnik D, Lipińska B
J Proteomics 2019 Apr 30;198:98-112. Epub 2018 Dec 6 doi: 10.1016/j.jprot.2018.12.003. PMID: 30529741

Prion protein amplification techniques.

Green AJE, Zanusso G
Handb Clin Neurol 2018;153:357-370. doi: 10.1016/B978-0-444-63945-5.00019-2. PMID: 29887145

Nucleic acid aptamers for neurodegenerative diseases.

Bouvier-Müller A, Ducongé F
Biochimie 2018 Feb;145:73-83. Epub 2017 Nov 20 doi: 10.1016/j.biochi.2017.10.026. PMID: 29104136

See all (98)

Therapy

Extracellular protein homeostasis in neurodegenerative diseases.

Wilson MR, Satapathy S, Vendruscolo M
Nat Rev Neurol 2023 Apr;19(4):235-245. Epub 2023 Feb 24 doi: 10.1038/s41582-023-00786-2. PMID: 36828943

Karyopherin abnormalities in neurodegenerative proteinopathies.

Pasha T, Zatorska A, Sharipov D, Rogelj B, Hortobágyi T, Hirth F
Brain 2021 Nov 29;144(10):2915-2932. doi: 10.1093/brain/awab201. PMID: 34019093 Free PMC Article

Nucleic acid aptamers for neurodegenerative diseases.

Bouvier-Müller A, Ducongé F
Biochimie 2018 Feb;145:73-83. Epub 2017 Nov 20 doi: 10.1016/j.biochi.2017.10.026. PMID: 29104136

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

Pharmacoperones for Misfolded Gonadotropin Receptors.

Newton CL, Anderson RC
Handb Exp Pharmacol 2018;245:111-134. doi: 10.1007/164_2017_64. PMID: 29043503

See all (73)

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

Molecular and biological hallmarks of ageing.

Aunan JR, Watson MM, Hagland HR, Søreide K
Br J Surg 2016 Jan;103(2):e29-46. doi: 10.1002/bjs.10053. PMID: 26771470

Chemical and biological approaches for adapting proteostasis to ameliorate protein misfolding and aggregation diseases: progress and prognosis.

Lindquist SL, Kelly JW
Cold Spring Harb Perspect Biol 2011 Dec 1;3(12) doi: 10.1101/cshperspect.a004507. PMID: 21900404 Free PMC Article

See all (43)

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

Amyloid Oligomers: A Joint Experimental/Computational Perspective on Alzheimer's Disease, Parkinson's Disease, Type II Diabetes, and Amyotrophic Lateral Sclerosis.

Nguyen PH, Ramamoorthy A, Sahoo BR, Zheng J, Faller P, Straub JE, Dominguez L, Shea JE, Dokholyan NV, De Simone A, Ma B, Nussinov R, Najafi S, Ngo ST, Loquet A, Chiricotto M, Ganguly P, McCarty J, Li MS, Hall C, Wang Y, Miller Y, Melchionna S, Habenstein B, Timr S, Chen J, Hnath B, Strodel B, Kayed R, Lesné S, Wei G, Sterpone F, Doig AJ, Derreumaux P
Chem Rev 2021 Feb 24;121(4):2545-2647. Epub 2021 Feb 5 doi: 10.1021/acs.chemrev.0c01122. PMID: 33543942 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

Modeling Lewy pathology propagation in Parkinson's disease.

Luk KC, Lee VM
Parkinsonism Relat Disord 2014 Jan;20 Suppl 1(0 1):S85-7. doi: 10.1016/S1353-8020(13)70022-1. PMID: 24262196 Free PMC Article

Proteostasis and movement disorders: Parkinson's disease and amyotrophic lateral sclerosis.

Bosco DA, LaVoie MJ, Petsko GA, Ringe D
Cold Spring Harb Perspect Biol 2011 Oct 1;3(10):a007500. doi: 10.1101/cshperspect.a007500. PMID: 21844169 Free PMC Article

See all (108)

Recent systematic reviews

The Role of Protein Misfolding and Tau Oligomers (TauOs) in Alzheimer's Disease (AD).

Mroczko B, Groblewska M, Litman-Zawadzka A
Int J Mol Sci 2019 Sep 20;20(19) doi: 10.3390/ijms20194661. PMID: 31547024 Free PMC Article

See all (1)

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Proteostasis deficiencies

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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