diff --git a/pathways/WP23/WP23.gpml b/pathways/WP23/WP23.gpml index 51a889187..4f3936874 100644 --- a/pathways/WP23/WP23.gpml +++ b/pathways/WP23/WP23.gpml @@ -1,5 +1,5 @@ - + The functional B-cell receptor is a multi-protein complex consisting of an antigen binding subunit and a signaling subunit. The antigen binding subunit is the membrane bound immunoglobulin and the signaling subunit consists of the Igα and Igβ proteins, which are covalently bound to each other. Both Igα and Igβ proteins have an immunoreceptor tyrosine -based activation motif (ITAM) each in its cytoplasmic region, which is responsible for the initiation and propagation of signaling. Antigen binding to the immunoglubulin results in the aggregation of both the immunoglobulin and the Igα/β subunits. This results in the phosphorylation of the tyrosine residues in the ITAM motif of the Igα/β subunits by the src-family of protein tyrosine kinases Lyn and Syk. The Src family kinases are initially in the proximity of the BCR as a result of membrane anchoring by virtue of its their acetylation. The N-terminal region of the kinases can also interact with the non-phosphorylated ITAMs of Igα. This association is further enhanced upon BCR engagement as a result of accumulation in BCR containing lipid rafts and SH2 domain mediated binding to the phosphorylated tyrosine residues in ITAMs. This increased association helps in amplifying the BCR mediated signaling. Doubly phosphorylated Igα/β ITAMs are necessary for efficient recruitment of Syk and its activation. Activated Syk then phsophorylates the adapter molecule B cell linker protein (BLNK), which acts as molecular scaffold for the recruitment of multiple effectors and hence the propagation of multiple signaling pathways. BLNK binds to Btk and PLCγ2 which results in optimal phosphorylation and activation of PLC. This is an important mechanism which links BCR to Ca2+ signaling. Apart from the PLC mediated Ca2+ signaling, BCR triggering also results in the the activaion of phosphatidylinositol-3 kinase (PI-3K). This activation takes place through the recruitment of p85 adaptor subunit of PI-3K to CD19 co-receptor, which is phosphorylated by Lyn on its cytoplasmic Y-X-X-M motif. Alternatively, PI-3K can be recruited to the plasma membrane by other adapter molecules including PIK3AP, CBL or GAB1/2. PI-3K catalyzes the phosphorylation of phosphatidylinositol 4,5-bisphosphate to phosphatidyl inositol 3,4,5-bisphosphate. Akt, a serine threonine kinase, is recruited to the plasma membrane by virtue of its N-terminal PH-domain where it is activated by conformational changes and phosphorylation. Activated Akt phosphorylates several substrates resulting in diverse physiological consequences: Forkhead transcription factors - resulting in its degradation and hence inhibition of expression of pro-apoptotic genes, glycogen synthase kinase-3 GSK3 -leading to its inhibition and hence regulation of cell-cycle. The tanscription factor NF-kappaB is also found to be activated in BCR signaling in a Btk, PI-3K and PKC dependent manner. BCR engagement can also result in the association of GRB2/SOS complex with either SHC or BLNK, which results in the activation of the Ras/Raf/MEK/ERK signaling cascade. This cascade leads to the activation of transcription factors including ELK and MYC. BCR activation also results in the activation of JNKs and p38MAPK. @@ -11,619 +11,619 @@ Kandasamy, K., Mohan, S. S., Raju, R., Keerthikumar, S., Kumar, G. S. S., Venugo Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP23 CPTAC Assay Portal] a83 - + + + + + + + + + - + - + - + - + - - - - - - - - - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - - - - - + - + + + + + - + @@ -648,7 +648,7 @@ Proteins on this pathway have targeted assays available via the [https://assays. - + @@ -669,15 +669,15 @@ Proteins on this pathway have targeted assays available via the [https://assays. - + - + - + @@ -694,7 +694,7 @@ Proteins on this pathway have targeted assays available via the [https://assays. - + @@ -706,11 +706,11 @@ Proteins on this pathway have targeted assays available via the [https://assays. - + - + @@ -736,7 +736,7 @@ Proteins on this pathway have targeted assays available via the [https://assays. - + @@ -757,7 +757,7 @@ Proteins on this pathway have targeted assays available via the [https://assays. - + @@ -766,1569 +766,1422 @@ Proteins on this pathway have targeted assays available via the [https://assays. - - - + + + - - - + + + - - - - + + + + - - - - + + + + - - - + + + - - - - + + + + - - - - + + + + - - - + + + - - - - + + + + - - - + + + + - - - - + + + + - - - - + + + + - - - + + + - - - - - + + + + + - - - + + + - - - - + + + + - - - - + + + + - - - + + + - - - - + + + + - - - - + + + + - - - - + + + + - - - + + + - - - - + + + + - - - - - - - - - - - + + + + - - - + + + - - - - + + + + - - - + + + - - - - + + + + - - - - + + + + - - - - + + + + - - - + + + - - - - + + + + - - - - + + + + - - - - + + + + - - - + + + - - - - + + + - - - + + + - - - - + + + + BCR stimulation induces the upregulation of ILF2 through ERK pathway - - - + + + - - - + + + - - - + + + - - - - + + + + - - - - + + + + RPS6KA1 phosphorylates CREB1 at the Ser133 site upon BCR stimulation in Bal17 B cells. - - - + + + - - - + + + + - - - + + + BCR stimulation leads to the association of SHC1 to tyrosine phosphorylated C-terminal of CD22 in murine K46 and BAL17IgM cells. - - - - + + + + Upon BCR activation, SH3 domain of Crk bind C3G in RAMOS human B lymphoma cells. - - - + + + Phosphorylation of CD79B by SYK. - - - + + + - - - + + + - - + + 3BP2 is tyrosine phosphorylated by Fyn following BCR aggregation on B lymphoma cells. - - - - - - - - - - + + + - - + + BCR activation induces the tyrosine phosphorylation of SH3BP2 (adaptor 3BP2) and Vav1 and enhanced Vav1 interaction with PRI domain of SH3BP2 in Daudi B cells. - - - + + + BCR stimulation leads to the association of SH3BP2 SH2 domain with Syk in Daudi B cells.3BP2 is a substrate of the protein-tyrosine kinase Syk, which phosphorylates it on Tyr174, Tyr183, and Tyr446. - - - - - - - - - - + + + BCR stimulation leads to the association of Bam32 with HPK1 in splenic B cells. - - - - - - - - - - - - - - - - - + + + - - - + + + BCR stimulation leads to CD19 association with Plcg2 in Daudi cells. - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - + + + + - - + + B cell receptor activation leads to the interaction of tyrosine phosphorylated CD19 with p85 subunits of PI3-kinase in Daudi B cells. - - - - + + + + Upon BCR stimulation, tyrosine phosphorylated CD22 binds and activates SHP-1 in B cells. - - - - + + + + BCR stimulation leads to tyrosine phosphorylation of MAP4K1 and its interaction to SH2 domain of BLNK in Murine WEHI231 B cells. - - - + + + - - + + - - - + + + B cell receptor activation induces tyrosine phosphorylation of Gab1 and its interaction with p85 subunits of PI3-kinase via its SH2 domain in Ramos B cells. - - - + + + BCR stimulation leads to rapid tyrosine phosphorylation of Lat2 and its interaction with cytoplasmic signaling molecule Grb2 in Ramos and THP-1 cells. - - - + + + BCR stimulation leads to the association of Rapgef1 with CRKL in RAMOS B cells. - - - + + + - - - + + + B cell receptor activation leads to the interaction of SH2 domain of Fyn with phosphorylated CD79A in B cells and J558L3 cells. - - - + + + Upon stimulation of BCR receptor, LYN phosphorylates BTK at Tyr551 site in Ramos B and NIH 3T3 cells. - - - + + + B cell receptor activation leads to the interaction of SH2 domain of Plcg2 with Blnk in DT40 B cells and the interaction is dependent on the phosphorylation of Tyr189 of BLNK. - - - + + + - - - + + + - - - + + + B cell receptor activation leads to the interaction of Blk with heterodimeric complex of CD79A and CD79B in J558L3 cells and COS cells. - - - + + + - - + + - - - + + + B cell receptor activation induces tyrosine phosphorylation of Gab1 and its interaction with PTPN11 in Ramos B cells. - - - + + + Upon stimulation of BCR, SYK phosphorylates SHC1 at the Tyr349, Tyr427 site in Bal-17 B cells. - - - + + + BTK phosphorylates PIK3AP1 upon BCR stimulation in mouse splenic B cells. - - - + + + upon BCR ligation GAB2,p85 subunit of PI3K and SHP2 form a complex in murine 38c13 cells. - - - + + + TEC phosphorylates PLCG2 at the Tyr753, Tyr759 site upon BCR stimulation in XLA-1 B cells. - - - + + + BCR activation induces the dephosphorylation of TEC by PTPN18 in COS7 cells. - - - + + + - - + + phosphorylated MAPK4 binds to Gab1 in BCR stimulated mature B cells. - - - + + + Upon activation of BCR, Cbl is phosphorylated and binds to the SH2 domain of Crk in Ramos B cells. - - - + + + upon BCR ligation Syk phosphorylates GAB2 in murine A20 cells and splenic B-cells. - - - + + + Ligand activated BCR induces the interaction of CD79A with Lck. - - - + + + MAPK8 phosphorylates JUN upon BCR stimulation in DT40 cells. - - - + + + - - - + + + AKT1 phosphorylates FOXO1 at the Thr24 site upon BCR stimulation in A20 cells. - - - + + + B cell receptor activation leads to the interaction of extracellular part of CD19 with CR2 in Daudi B cells. - - - + + + BCR activation induces association and phosphorylation of CD79A by LYN in B cells - - - + + + PDPK1 phosphorylates AKT1 at the Ser473 site upon stimulation of BCR in murine splenic B cells. - - - + + + BCR activation induces the phosphorylatin of PTPN18 by TEC in COS7 cells. - - - + + + - - - + + + - - - + + + BTK associates with PIP5K's upon BCR activation in BCR stimulated Ramos, A20 and primary splenic B cells. - - - + + + PRKCB1 phosphorylates CHUK upon BCR stimulation in murine splenic B cells. - - - + + + PRKCB1 phosphorylates IKBKB upon BCR stimulation in murine splenic B cells. - - - + + + - - - + + + - - - + + + - - - + + + - - - + + + - - - + + + - - - + + + Upon BCR stimulation, SYK phosphorylates BLNK at the Tyr72, Tyr84, Tyr96 site in Daudi cells - - - + + + MAPK1 phosphorylates ELK1 upon BCR stimulation in DT40 cells. - - - + + + BCR activation induces the phosphorylation of MAX by MAPK14 - - - + + + B cell activation induces the phosphorylation of ETS1. - - - + + + Upon BCR stimulation BAP135 is associated with PH domain of BTK in Ramos and 293 cells. - - + + BCCR activation induces the phosphorylation of HCLS1 by LYN in M1 cells. - - - + + + - - - + + + - - + + - - + + - - - + + + - - - + + + - - - + + + B cell receptor activation leads to the interaction of extracellular part of CD19 with CD81 in Daudi B cells. - - - + + + BCR stimulation induced SYK mediated HCLS1 tyrosine phosphorylation in WEHI-231 cells. - - - + + + - - - + + + - - - + + + - - - + + + - - - + + + - - - + + + - - + + - - + + - - + + - - - + + + - - - + + + - - - + + + - - + + - - - - + + + + - - - - + + BCR stimulation induces the upregulation of MEF2D + + + - - - - + + BCR stimulation induces the upregulation of IRF4 through NFAT pathway + + + - - - - + + BCR stimulation leads to the upregulation of E2F3 through NFKB pathway. + + + + - - - - + + + + - - BCR stimulation induces the upregulation of MEF2D - - - + + + + - - BCR stimulation induces the upregulation of IRF4 through NFAT pathway - - - + + + + - - BCR stimulation leads to the upregulation of E2F3 through NFKB pathway. - - - - + + + + - - - - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + - - - + + + - - + + - - - + + + - - - - - - - - - + + + - - - - - - - - - + + + - - - - - - - - - - - - - - - + + + - - + + - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - + + + - - - + + + - - - + + + - - - + + + - - - + + + - - - + + + - - - + + + - - - + + + + + + + + + - - - - - - - - - - - - - - - - - - diff --git a/pathways/WP4522/WP4522.gpml b/pathways/WP4522/WP4522.gpml index 58de15ef9..1b7948bcd 100644 --- a/pathways/WP4522/WP4522.gpml +++ b/pathways/WP4522/WP4522.gpml @@ -1,5 +1,5 @@ - + This pathway shows genetic disorders related to lipoprotein metabolism. Two plasmalipoproteins, LDL and HDL, and one plasma lipid, triglyceride (TG), play an important role in this pathway. Hydrophobic lipids and fat-soluble vitamins are normally transported to the site of their uptake by transporters called lipoproteins, and any deregulation of the plasma concentrations of these proteins can cause dyslipidemias. Disorders resulting from an enzyme deficiency are highlighted in pink. More details on the composition of the various lipoproteins in this pathway are visualised in [https://www.wikipathways.org/index.php/Pathway:WP3601]. This pathway was inspired by Chapter 43 of the book of Blau (ISBN 3642403360 (978-3642403361)). @@ -25,8 +25,8 @@ This pathway was inspired by Chapter 43 of the book of Blau (ISBN 3642403360 (97 - - AKA SCARB1; Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux. + + SR-B1; AKA SCARB1; Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux. e62 @@ -55,13 +55,13 @@ This pathway was inspired by Chapter 43 of the book of Blau (ISBN 3642403360 (97 - - EC 3.1.1.3 + + HL; EC 3.1.1.3 - - EC 3.1.1.3 aka LIPC + + HL; EC 3.1.1.3 aka LIPC @@ -69,12 +69,14 @@ This pathway was inspired by Chapter 43 of the book of Blau (ISBN 3642403360 (97 - + + Annexin A2 caa - + + LDL-receptor @@ -83,8 +85,8 @@ This pathway was inspired by Chapter 43 of the book of Blau (ISBN 3642403360 (97 - - AKA Apolipoprotein C2; cofactor for lipoprotein lipase (LPL) enzyme. + + C-II; AKA Apolipoprotein C2; cofactor for lipoprotein lipase (LPL) enzyme. @@ -145,8 +147,8 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most - - AKA APo E, a ligand for receptor mediated endocytosis. + + E; AKA APo E, a ligand for receptor mediated endocytosis. @@ -171,24 +173,24 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most - - AKA APo E, a ligand for receptor mediated endocytosis. + + E; AKA APo E, a ligand for receptor mediated endocytosis. - - AKA Apo A-I; activator of lecithin-cholesterol acyl transferase (LCAT). - + + A-I; AKA Apo A-I; activator of lecithin-cholesterol acyl transferase (LCAT). + - - AKA Apolipoprotein A-II - + + A-II; AKA Apolipoprotein A-II + - - AKA Apo A-I; activator of lecithin-cholesterol acyl transferase (LCAT). - + + A-I; AKA Apo A-I; activator of lecithin-cholesterol acyl transferase (LCAT). + @@ -213,18 +215,18 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most - - AKA Apolipoprotein C2; cofactor for lipoprotein lipase (LPL) enzyme. + + C-II; AKA Apolipoprotein C2; cofactor for lipoprotein lipase (LPL) enzyme. - - AKA APo E, a ligand for receptor mediated endocytosis. + + E; AKA APo E, a ligand for receptor mediated endocytosis. - - AKA APo E, a ligand for receptor mediated endocytosis. + + E; AKA APo E, a ligand for receptor mediated endocytosis. @@ -290,7 +292,7 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most - + @@ -346,8 +348,8 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most - - + + @@ -420,7 +422,7 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most - + @@ -435,7 +437,7 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most - + @@ -547,7 +549,7 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most - + @@ -565,7 +567,7 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most - + @@ -948,26 +950,89 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most - - 8939939 + + autosomal recessive hypercholesterolemia + DOID:0090105 + Disease + + + 15071125 PubMed - A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. + Effects of an inhibitor of cholesteryl ester transfer protein on HDL cholesterol. + N Engl J Med + 2004 + Brousseau ME + Schaefer EJ + Wolfe ML + Bloedon LT + Digenio AG + Clark RW + Mancuso JP + Rader DJ + + + 4061122 + PubMed + Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease. + Acta Med Scand + 1985 + Carlson LA + Holmquist L + + + Tangier disease + DOID:1388 + Disease + + + 15728179 + PubMed + Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein. J Biol Chem - 1996 - Rehberg EF - Samson-Bouma ME - Kienzle B - Blinderman L - Jamil H - Wetterau JR - Aggerbeck LP - Gordon DA + 2005 + Mishra SK + Keyel PA + Edeling MA + Dupin AL + Owen DJ + Traub LM familial combined hyperlipidemia DOID:13809 Disease + + 26224785 + PubMed + Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function. + Circ Cardiovasc Genet + 2015 + Walsh MT + Iqbal J + Josekutty J + Soh J + Di Leo E + Özaydin E + Gündüz M + Tarugi P + Hussain MM + + + 52771 + PubMed + A new type of familial hypercholesterolaemia. + Lancet + 1975 + Higgins MJ + Lecamwasam DS + Galton DJ + + + disease pathway + PW:0000013 + Pathway Ontology + 26965621 PubMed @@ -1024,22 +1089,34 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most Kathiresan S Rader DJ - - 194920 + + 23066022 PubMed - Isolation and characterization of an abnormal high density lipoprotein in Tangier Diesase. - J Clin Invest - 1977 - Assmann G - Herbert PN - Fredrickson DS - Forte T + Studies on the substrate and stereo/regioselectivity of adipose triglyceride lipase, hormone-sensitive lipase, and diacylglycerol-O-acyltransferases. + J Biol Chem + 2012 + Eichmann TO + Kumari M + Haas JT + Farese RV Jr + Zimmermann R + Lass A + Zechner R + + + 3477815 + PubMed + Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. + Proc Natl Acad Sci U S A + 1987 + Innerarity TL + Weisgraber KH + Arnold KS + Mahley RW + Krauss RM + Vega GL + Grundy SM - - cholesterol-ester transfer protein deficiency - DOID:0111368 - Disease - 22236406 PubMed @@ -1057,19 +1134,103 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most Bozon D Sassolas A - - 3477815 + + 9783642403361 + ISBN + Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases + 9783642403361 + 2014 + Blau Nenad + Duran Marinus + Gibson, K, Michael + Dionisi-Vici, Carlo + + + 168823 PubMed - Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. - Proc Natl Acad Sci U S A - 1987 - Innerarity TL - Weisgraber KH - Arnold KS - Mahley RW - Krauss RM - Vega GL + Familial hyperalphalipoproteinemia. + Arch Intern Med + 1975 + Glueck CJ + Fallat RW + Millett F + Steiner PM + + + 7327552 + PubMed + Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass. + Hum Genet + 1981 + Albers JJ + Chen C + Adolphson JL + + + 3944267 + PubMed + Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. + J Clin Invest + 1986 + Baggio G + Manzato E + Gabelli C + Fellin R + Martini S + Enzi GB + Verlato F + Baiocchi MR + Sprecher DL + Kashyap ML + + + lipoprotein metabolic pathway + PW:0000482 + Pathway Ontology + + + 7426196 + PubMed + Cadiovascular complications of homozygous familial hypercholesterolaemia. + Br Heart J + 1980 + Allen JM + Thompson GR + Myant NB + Steiner R + Oakley CM + + + 3004475 + PubMed + ApoE deficiency: markedly decreased levels of cellular ApoE mRNA. + Biochem Biophys Res Commun + 1986 + Anchors JM + Gregg RE + Law SW + Brewer HB Jr + + + 6403642 + PubMed + Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. + J Lipid Res + 1983 + Brunzell JD + Albers JJ + Chait A Grundy SM + Groszek E + McDonald GB + + + 19139765 + PubMed + Plasma lipoproteins: geneticinfluences and clinical implications. + Nat Rev Genet + 2009 + Hegele RA 190272 @@ -1096,93 +1257,27 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most van Bockxmeer FM Hooper AJ - - 6961921 + + abetalipoproteinemia + DOID:1386 + Disease + + + 194920 PubMed - Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. - Atherosclerosis - 1982 - Breckenridge WC - Little JA - Alaupovic P - Wang CS - Kuksis A - Kakis G - Lindgren F - Gardiner G - - - 3630977 - PubMed - An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. - Am J Clin Pathol - 1987 - Berger GM - - - 28538136 - PubMed - Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease. - N Engl J Med - 2017 - Dewey FE - Gusarova V - Dunbar RL - O'Dushlaine C - Schurmann C - Gottesman O - McCarthy S - Van Hout CV - Bruse S - Dansky HM - Leader JB - Murray MF - Ritchie MD - Kirchner HL - Habegger L - Lopez A - Penn J - Zhao A - Shao W - Stahl N - Murphy AJ - Hamon S - Bouzelmat A - Zhang R - Shumel B - Pordy R - Gipe D - Herman GA - Sheu WHH - Lee IT - Liang KW - Guo X - Rotter JI - Chen YI - Kraus WE - Shah SH - Damrauer S - Small A - Rader DJ - Wulff AB - Nordestgaard BG - Tybjærg-Hansen A - van den Hoek AM - Princen HMG - Ledbetter DH - Carey DJ - Overton JD - Reid JG - Sasiela WJ - Banerjee P - Shuldiner AR - Borecki IB - Teslovich TM - Yancopoulos GD - Mellis SJ - Gromada J - Baras A + Isolation and characterization of an abnormal high density lipoprotein in Tangier Diesase. + J Clin Invest + 1977 + Assmann G + Herbert PN + Fredrickson DS + Forte T + + familial apolipoprotein C-II deficiency + DOID:0111418 + Disease + 12730697 PubMed @@ -1216,66 +1311,32 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most Seidah NG Boileau C - - 3944267 - PubMed - Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. - J Clin Invest - 1986 - Baggio G - Manzato E - Gabelli C - Fellin R - Martini S - Enzi GB - Verlato F - Baiocchi MR - Sprecher DL - Kashyap ML - - - 23475612 - PubMed - Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. - J Lipid Res - 2013 - Khatun I - Walsh MT - Hussain MM - - - altered lipoprotein metabolic pathway - PW:0000484 - Pathway Ontology - - - 23066022 + + 8939939 PubMed - Studies on the substrate and stereo/regioselectivity of adipose triglyceride lipase, hormone-sensitive lipase, and diacylglycerol-O-acyltransferases. + A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. J Biol Chem - 2012 - Eichmann TO - Kumari M - Haas JT - Farese RV Jr - Zimmermann R - Lass A - Zechner R + 1996 + Rehberg EF + Samson-Bouma ME + Kienzle B + Blinderman L + Jamil H + Wetterau JR + Aggerbeck LP + Gordon DA - - triacylglycerol metabolic pathway - PW:0000153 - Pathway Ontology - - - 52771 + + 16452169 PubMed - A new type of familial hypercholesterolaemia. - Lancet - 1975 - Higgins MJ - Lecamwasam DS - Galton DJ + Crystal structure of human apolipoprotein A-I: insights into its protective effect against cardiovascular diseases. + Proc Natl Acad Sci U S A + 2006 + Ajees AA + Anantharamaiah GM + Mishra VK + Hussain MM + Murthy HM 24808179 @@ -1294,38 +1355,30 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most Seidah NG Day R - - lipoprotein metabolic pathway - PW:0000482 - Pathway Ontology - familial combined hyperlipidemia pathway PW:0000175 Pathway Ontology - - 6403642 - PubMed - Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. - J Lipid Res - 1983 - Brunzell JD - Albers JJ - Chait A - Grundy SM - Groszek E - McDonald GB - - - 17215125 + + hypobetalipoproteinemia + DOID:1390 + Disease + + + cholesterol-ester transfer protein deficiency + DOID:0111368 + Disease + + + 6805319 PubMed - Molecular biology of PCSK9: its role in LDL metabolism. - Trends Biochem Sci - 2007 - Horton JD - Cohen JC - Hobbs HH + Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency. + Am J Hum Genet + 1982 + Frohlich J + Hon K + McLeod R 18039658 @@ -1344,37 +1397,65 @@ ApoB 48 is a unique protein to chylomicrons from the small intestine. After most Prat A Seidah NG - - 7327552 + + 23475612 PubMed - Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass. - Hum Genet - 1981 - Albers JJ - Chen C - Adolphson JL + Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. + J Lipid Res + 2013 + Khatun I + Walsh MT + Hussain MM - - 11717312 + + familial lipoprotein lipase deficiency + DOID:14118 + Disease + + + triacylglycerol metabolic pathway + PW:0000153 + Pathway Ontology + + + 24288038 PubMed - Hormone-sensitive lipase deficiency in mice causes diglyceride accumulation in adipose tissue, muscle, and testis. - J Biol Chem - 2002 - Haemmerle G - Zimmermann R - Hayn M - Theussl C - Waeg G - Wagner E - Sattler W - Magin TM - Wagner EF - Zechner R + Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. + J Inherit Metab Dis + 2014 + Lee J + Hegele RA - - 21480869 + + 27068984 PubMed - Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans. + Current trends in oxysterol research. + Biochem Soc Trans + 2016 + Griffiths WJ + Abdel-Khalik J + Hearn T + Yutuc E + Morgan AH + Wang Y + + + 18499582 + PubMed + A PCSK9 missense variant associated with a reduced risk of early-onset myocardial infarction. + N Engl J Med + 2008 + Kathiresan S + + + altered lipoprotein metabolic pathway + PW:0000484 + Pathway Ontology + + + 21480869 + PubMed + Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans. 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