MALT1, MALT1 paracaspase, 10892

N. diseases: 148; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 Biomarker disease GENOMICS_ENGLAND Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation. 25627829 2015
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 GermlineCausalMutation disease ORPHANET Combined immunodeficiency associated with homozygous MALT1 mutations. 24332264 2014
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 GeneticVariation disease UNIPROT A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. 23727036 2013
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 GermlineCausalMutation disease ORPHANET A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. 23727036 2013
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 Biomarker disease CTD_human
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 CausalMutation disease CLINVAR
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 AlteredExpression disease BEFREE Here, we report that the expression of the paracaspase mucosa-associated lymphoid tissue l (MALT1), a protease previously linked to antigen receptor-mediated NF-κB activation and B-cell lymphoma survival, inversely correlates with patient probability of survival. 31774199 2020
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 Biomarker disease BEFREE Mucosa-associated lymphoid tissue lymphoma translocation 1 protein (MALT1) consisting of death domain, Ig-like domains and caspase-like domain is expressed in nucleus of oral carcinoma cells, and loss of the expression closely associates with disease progression and stimulates proliferation of the cells. 31791579 2020
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 Biomarker disease BEFREE This study tested the hypothesis that mucosa associated lymphoid tissue 1 (Malt1) deficiency causes osteoporosis in mice by increasing osteoclastogenesis and osteoclast activity. 31313375 2019
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 Biomarker disease BEFREE Following activation of CD4<sup>+</sup> T cells, however, N4BP1 undergoes rapid cleavage at Arg 509 by the paracaspase named mucosa-associated lymphoid tissue lymphoma translocation 1 (MALT1). 31133753 2019
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 Biomarker disease BEFREE The aggressive activated B-cell like (ABC) subtype of diffuse large B-cell lymphoma (DLBCL) exploits a multi-protein complex of CARMA1, BCL10, and MALT1 (CBM complex), which normally conveys NF-κB signaling upon antigen receptors engagement. 30474008 2018
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 GeneticVariation disease BEFREE The present study confirms that genes involved in activation of NF-κB-signaling pathways are a major driver in oncogenesis of H. pylori eradication-resistant gastric marginal zone lymphoma and revealed that TRAF3 mutation is a major contributor in MALT1 rearrangement-negative gastric marginal zone lymphoma. 29765142 2018
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 GeneticVariation disease BEFREE Here, we show that MI-2, a selective inhibitor of mucosa-associated lymphoid tissue lymphoma translocation-1 (MALT1), alleviated excessive inflammatory responses and was associated with restoration of healthy intestinal microbiome in mice suffering from dextran sulfate sodium (DSS)-induced colitis. 30249750 2018
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 GeneticVariation disease BEFREE Mucosa-associated lymphoid tissue 1 (Malt1) regulates immune cell function by mediating the activation of nuclear factor κB (NF-κB) signaling through both its adaptor and proteolytic function. 30025160 2018
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE The biological significance of BAFF signalling in t(11;18)(q21;q21)-negative lymphoma cells was further studied in two types of lymphoma B cell: OCI-Ly3 [non-germinal centre B-cell origin DLBCL without t(11;18)(q21;q21) cell line] and MA-1 [t(14;18)(q32;q21)/IGH-MALT1-positive DLBCL cell line]. 27873317 2017
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 Biomarker disease BEFREE Fluorescent in situ hybridization detected IGH/BCL2 translocation in 1 FL, increased BCL6 copy number in another FL, BCL6 rearrangement, and increased copy number of MYC and MALT1 in the DLBCL with marginal zone lymphoma. 28038709 2017
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 GeneticVariation disease BEFREE We identified a homozygous missense mutation in mucosa-associated lymphoid tissue lymphoma translocation 1 gene (MALT1), which precluded protein expression. 27253662 2017
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 Biomarker disease BEFREE To identify the clinical features of gastric mucosa-associated lymphoid tissue (MALT) lymphoma with extra copies of MALT1. 28970731 2017
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 Biomarker disease BEFREE Emerging evidence suggests that mucosa-associated lymphoid tissue lymphoma translocation 1 (MALT1) is a key regulator of inflammatory diseases; however, the pathological role of MALT1 in rheumatoid arthritis (RA) is not well understood. 28928392 2017
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 GeneticVariation disease BEFREE The three translocations seen in MALT lymphoma, namely t(14;18)(q32;q21)/IGH-MALT1, t(1;14)(p22;q32)/BCL10-IGH, and t(11;18)(q21;q21)/BIRC3 (API2)-MALT1 are capable of activating both canonical and non-canonical NF-κB pathways. 28288707 2017
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 Biomarker disease BEFREE Regnase-1 activation is transient and is subject to negative feedback mechanisms including proteasome-mediated degradation or mucosa-associated lymphoid tissue 1 (MALT1) mediated cleavage. 28194024 2017
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 Biomarker disease BEFREE Mucosa-associated lymphoma antigen 1 (MALT1) is a lymphoma oncogene that regulates signal transduction as a paracaspase and an adaptor protein. 28759024 2017
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 Biomarker disease BEFREE Fluorescent in situ hybridization detected IGH/BCL2 translocation in 1 FL, increased BCL6 copy number in another FL, BCL6 rearrangement, and increased copy number of MYC and MALT1 in the DLBCL with marginal zone lymphoma. 28038709 2017
Mucosa-Associated Lymphoid Tissue Lymphoma
0.400 Biomarker disease BEFREE Luciferase assays revealed that ebv-miR-BHRF1-2-5p may directly target MALT1 (mucosa-associated lymphoid tissue lymphoma transport protein 1), a key regulator of immune homeostasis. 28253538 2017
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 AlteredExpression disease BEFREE This study aimed to assess the effects of phorbol myristate acetate/ionomycin (PMA/IONO) on the growth and apoptosis of the DLBCL cell line OCI-LY1, and their associations with A20, MALT1 and survivin levels. 27349720 2016