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Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.
Banushi B, Simpson F. Banushi B, et al. Cells. 2022 Nov 21;11(22):3702. doi: 10.3390/cells11223702. Cells. 2022. PMID: 36429129 Free PMC article. Review.
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Hermansky-Pudlak syndromes, Griscelli syndrome and the Arthrogryposis, Renal dysfunction and Cholestasis …
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Her …
Sorting machineries: how platelet-dense granules differ from α-granules.
Chen Y, Yuan Y, Li W. Chen Y, et al. Biosci Rep. 2018 Sep 7;38(5):BSR20180458. doi: 10.1042/BSR20180458. Print 2018 Oct 31. Biosci Rep. 2018. PMID: 30104399 Free PMC article. Review.
Platelet DGs store polyphosphate and small molecules such as ADP, ATP, Ca(2+), and serotonin, while AGs package most of the proteins that platelets release. ...Inherited platelet disorders are associated with deficiency of DGs and AGs, leading to bleeding diathesis in pati …
Platelet DGs store polyphosphate and small molecules such as ADP, ATP, Ca(2+), and serotonin, while AGs package most of the proteins …
α-granule biogenesis: from disease to discovery.
Chen CH, Lo RW, Urban D, Pluthero FG, Kahr WH. Chen CH, et al. Platelets. 2017 Mar;28(2):147-154. doi: 10.1080/09537104.2017.1280599. Epub 2017 Feb 22. Platelets. 2017. PMID: 28277061 Review.
Insights into alpha-granule biogenesis have come from studies of hereditary conditions where these granules are immature, deficient or absent. Studies of Arthrogryposis, Renal dysfunction, and Cholestasis (ARC) syndrome identified the first prot …
Insights into alpha-granule biogenesis have come from studies of hereditary conditions where these granules are immature, deficient or absen …
Advances in our understanding of the molecular basis of disorders of platelet function.
Nurden A, Nurden P. Nurden A, et al. J Thromb Haemost. 2011 Jul;9 Suppl 1:76-91. doi: 10.1111/j.1538-7836.2011.04274.x. J Thromb Haemost. 2011. PMID: 21781244 Free article. Review.
Defects of alpha-granule biosynthesis also involve germline VPS33B mutations in the ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome. A mutation in transmembrane protein 16F (TMEM16F) has been linked to a defective procoagulant a …
Defects of alpha-granule biosynthesis also involve germline VPS33B mutations in the ARC (arthrogryposis, renal dysfunction …
Molecular basis of intrahepatic cholestasis.
Carlton VE, Pawlikowska L, Bull LN. Carlton VE, et al. Ann Med. 2004;36(8):606-17. doi: 10.1080/07853890410018916. Ann Med. 2004. PMID: 15768832 Review.
Mutations in BAAT, TJP2 (ZO-2), and EPHX1 have been identified in patients with hypercholanemia. A CLDN1 mutation was recently reported in patients with ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis (ILVASC), and North American Indian childhood cirrho …
Mutations in BAAT, TJP2 (ZO-2), and EPHX1 have been identified in patients with hypercholanemia. A CLDN1 mutation was recently report …