Supplementary Table 158–1. Defects of Cargo Sorting and Vesicle ...

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Mucolipidosis II (I-cell disease; 252500) Mucolipidosis IIIA (classical Pseudo- Hurler poly-dystrophy; 252600) Mucolipidosis IIIC (variant Pseudo-Hurler polydystrophy; 252605) Lowe oculocerebrorenal syndrome (309000) and 3 (DTNBP1 encoding dysbindin, BLOC1S3; HPS3, HPS5, HPS6; HPS1, HPS4) N-acetylglucosamine-1- phosphotransferase, catalyses formation of mannose 6-phosphate on lysosomal prot., α/β- subunits (GNPTAB) γ-subunit (GNPTAG) OCRL1, PtdIns(4,5)P2 5- phosphatase localized to the trans-Golgi network, early endosomes, and clathrin-coated vesicles (OCRL1) Retarded psychomotor development, visceral and skeletal involvement with lysosomal deposition of undegraded material Developmental disorder with congenital cataracts, renal tubular dysfunction and neurological deficits Leakage of lysosomal hydrolases from cells due to lack of mannose-6-phosphate targeting signal; Lysosomal accumulation of undegraded macromolecules Secretion of lysosomal hydrolases; Abnormalities of the actin cytoskeleton; Accumulation of PtdIns(4,5)P2 ; Defective protein trafficking between trans-Golgi network and endosomes Pietro and Dell’Angelica, 2005; Gautam et al., 2006; Wei, 2006) Raas-Rothschild et al., 2000, 2004; Tiede et al., 2005; Kudo et al., 2006 Attree et al., 1992; Suchy et al., 1995; Zhang et al., 1995; Ungewickell et al., 2004; Choudhury et al., 2005; Halstead et al., 2005; Lowe, 2005; Hyvola et al., 2006;
Periventricular heterotopia with microcephaly (608097) Cranio-lenticulo-sutural dysplasia (CLSD; 607812) References ARFGEF2 = BIG2, guanine nucleotide exchange factor for ARF (ARFGEF2) SEC23A, component of the COPII coat that functions in membrane trafficking from the ER to the Golgi (SEC23A) Severe malformation of the cerebral cortex, developmental delay, recurrent infections; no evident anomalies outside the central nervous system Craniofacial dysmorphisms, sutural cataracts, mild skeletal dysplasia Defective neural precursor proliferation and neuron migration to cerebral cortex; Myelination defect; Experiments with cultured cells suggest function ARFGEF2 in both ER exit and post-Golgi vesicle transport Abnormal bone and connective tissue formation—potentially resulting from a defect in the secretion of extracellular matrix proteins; Dilatation of the ER in fibroblasts, cytoplasmic mislocalization of the COPII component SEC31 Antonny B, Schekman R (2001). ER export: public transportation by the COPII coach. Curr Opin Cell Biol 13: 438–443. Charych et al., 2004; Sheen et al., 2004; Mouratou et al., 2005; Xu et al., 2005; Lu et al., 2006 Barlowe et al., 1994; Antonny and Schekman, 2001; Bonifacino and Glick, 2004; Boyadjiev et al., 2006; Lang et al., 2006 Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL (1992). The Lowe’s oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358: 239–242.
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Supplementary Table 158–1. Defects of Cargo Sorting and Vesicle ...

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