The genetic and molecular bases of monogenic disorders affecting proteolytic systems (Q35448691)

8 August 2017

1 reference

title

The genetic and molecular bases of monogenic disorders affecting proteolytic systems (English)

1 reference

8 August 2017

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Richard I

1

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8 August 2017

language of work or name

English

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publication date

1 July 2005

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

42

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8 August 2017

issue

7

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8 August 2017

page(s)

529-539

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Decreased proteolysis caused by protein aggregates, inclusion bodies, plaques, lipofuscin, ceroid, and 'aggresomes' during oxidative stress, aging, and disease.

8 August 2017

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27 July 2018

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27 July 2018

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27 July 2018

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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

27 July 2018

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Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

27 July 2018

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Parkin facilitates the elimination of expanded polyglutamine proteins and leads to preservation of proteasome function.

27 July 2018

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27 July 2018

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The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation

27 July 2018

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Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis

27 July 2018

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The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility

27 July 2018

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The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Reelin is a serine protease of the extracellular matrix

27 July 2018

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Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura

27 July 2018

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Mutations of the cationic trypsinogen gene in hereditary and non-hereditary pancreatitis

27 July 2018

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27 July 2018

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The calpain family and human disease

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Complement. First of two parts

27 July 2018

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27 July 2018

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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

27 July 2018

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Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen

27 July 2018

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Activation of the IkappaB kinase complex by TRAF6 requires a dimeric ubiquitin-conjugating enzyme complex and a unique polyubiquitin chain

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

27 July 2018

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27 July 2018

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27 July 2018

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Hereditary pancreatitis-associated mutation asn(21) --> ile stabilizes rat trypsinogen in vitro

27 July 2018

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Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

27 July 2018

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A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

27 July 2018

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Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.

27 July 2018

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The ubiquitin pathway in Parkinson's disease

27 July 2018

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Intrinsic mineralization defect in Hyp mouse osteoblasts

27 July 2018

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The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease

27 July 2018

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Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

27 July 2018

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

27 July 2018

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Positional cloning of the APECED gene

27 July 2018

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Neurotrypsin, a novel multidomain serine protease expressed in the nervous system

27 July 2018

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Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

27 July 2018

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Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

27 July 2018

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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

27 July 2018

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UBE3A/E6-AP mutations cause Angelman syndrome

27 July 2018

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The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2

27 July 2018

1 reference

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Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene

27 July 2018

1 reference

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Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

27 July 2018

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Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion

27 July 2018

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The molecular basis of hereditary complement factor I deficiency

27 July 2018

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Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

27 July 2018

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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

27 July 2018

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

27 July 2018

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Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function

27 July 2018

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Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

27 July 2018

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Procollagen peptidase: an enzyme excising the coordination peptides of procollagen

27 July 2018

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C1r deficiency: an inborn error associated with cutaneous and renal disease

27 July 2018

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Biosynthesis of human von Willebrand factor

27 July 2018

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Thrombosis in inherited deficiencies of antithrombin, protein C, and protein S.

27 July 2018

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Matrix metalloproteinase 2 from human rheumatoid synovial fibroblasts. Purification and activation of the precursor and enzymic properties

27 July 2018

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A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable

27 July 2018

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Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

The fat facets gene is required for Drosophila eye and embryo development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Cysteine proteases as disease markers

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

A novel ubiquitin ligase is deficient in Fanconi anemia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Mutations in NHLRC1 cause progressive myoclonus epilepsy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Hirschsprung disease is linked to defects in neural crest stem cell function

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Inherited deficiency of mannan-binding lectin-associated serine protease 2.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

The neural crest stem cells: control of neural crest cell fate and plasticity by endothelin-3.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Complement. Second of two parts

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Location and function of the epithelial Na channel in the cochlea.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

The synucleins: a family of proteins involved in synaptic function, plasticity, neurodegeneration and disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Regulation of ubiquitin-dependent processes by deubiquitinating enzymes

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736095

Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15994873

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2004.028118

1 reference

8 August 2017

1 reference

8 August 2017

1 reference