-
1
-
-
0033012287
-
Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia
-
Zuliani G., Arca M., Signore A., et al. Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol 19 (1999) 802-809
-
(1999)
Arterioscler Thromb Vasc Biol
, vol.19
, pp. 802-809
-
-
Zuliani, G.1
Arca, M.2
Signore, A.3
-
2
-
-
0035906961
-
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
-
Garcia C.K., Wilund K., Arca M., et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 292 (2001) 1394-1398
-
(2001)
Science
, vol.292
, pp. 1394-1398
-
-
Garcia, C.K.1
Wilund, K.2
Arca, M.3
-
3
-
-
0242660344
-
Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia
-
Soutar A.K., Naoumova R.P., and Traub L. Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol 23 (2003) 1963-1970
-
(2003)
Arterioscler Thromb Vasc Biol
, vol.23
, pp. 1963-1970
-
-
Soutar, A.K.1
Naoumova, R.P.2
Traub, L.3
-
4
-
-
0037045847
-
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH a clinical and molecular genetic analysis
-
Arca M., Zuliani G., Wilund K., et al. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH a clinical and molecular genetic analysis. Lancet 359 (2002) 841-847
-
(2002)
Lancet
, vol.359
, pp. 841-847
-
-
Arca, M.1
Zuliani, G.2
Wilund, K.3
-
5
-
-
12244279036
-
Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene
-
Barbagallo C.M., Emmanuele G., Cefalu A.B., et al. Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene. Atherosclerosis 166 (2003) 395-400
-
(2003)
Atherosclerosis
, vol.166
, pp. 395-400
-
-
Barbagallo, C.M.1
Emmanuele, G.2
Cefalu, A.B.3
-
6
-
-
0037112908
-
Molecular mechanisms of autosomal recessive hypercholesterolemia
-
Wilund K., Yi R.M., Campagna F., et al. Molecular mechanisms of autosomal recessive hypercholesterolemia. Hum Mol Genet 11 (2002) 3019-3030
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3019-3030
-
-
Wilund, K.1
Yi, R.M.2
Campagna, F.3
-
7
-
-
0141429979
-
A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA
-
Al-Kateb H., Bautz E.K., Luft F.C., and Bahring S. A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA. Circ Res 93 (2003) e49-50
-
(2003)
Circ Res
, vol.93
-
-
Al-Kateb, H.1
Bautz, E.K.2
Luft, F.C.3
Bahring, S.4
-
8
-
-
0038748336
-
A Q136Stop mutation in the ARH gene causing autosomal recessive hypercholesterolaemia with severely delayed LDL catabolism
-
Tietge U.J., Genschel J., and Schmidt H.H. A Q136Stop mutation in the ARH gene causing autosomal recessive hypercholesterolaemia with severely delayed LDL catabolism. J Intern Med 253 (2003) 582-583
-
(2003)
J Intern Med
, vol.253
, pp. 582-583
-
-
Tietge, U.J.1
Genschel, J.2
Schmidt, H.H.3
-
9
-
-
0037630245
-
Clinical features and genetic analysis of autosomal recessive hypercholesterolemia
-
Harada-Shiba M., Takagi A., Miyamoto Y., et al. Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. J Clin Endocrinol Metab 88 (2003) 2541-2547
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 2541-2547
-
-
Harada-Shiba, M.1
Takagi, A.2
Miyamoto, Y.3
-
10
-
-
19944430011
-
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia
-
Canizales-Quinteros S., Aguilar-Salinas C.A., Huertas-Vazquez A., et al. A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. Hum Genet 116 (2005) 114-120
-
(2005)
Hum Genet
, vol.116
, pp. 114-120
-
-
Canizales-Quinteros, S.1
Aguilar-Salinas, C.A.2
Huertas-Vazquez, A.3
-
11
-
-
34848910752
-
Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene
-
Quagliarini F., Vallvé J.C., Campagna F., et al. Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene. Mol Genet Metab 92 (2007) 243-248
-
(2007)
Mol Genet Metab
, vol.92
, pp. 243-248
-
-
Quagliarini, F.1
Vallvé, J.C.2
Campagna, F.3
-
12
-
-
0036897341
-
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1
-
Eden E.R., Patel D.D., Sun X.-M., et al. Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. J Clin Invest 110 (2002) 1695-1702
-
(2002)
J Clin Invest
, vol.110
, pp. 1695-1702
-
-
Eden, E.R.1
Patel, D.D.2
Sun, X.-M.3
-
13
-
-
0042206621
-
Normal sorting but defective endocytosis of the low-density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia
-
Jones C., Hammer R.E., Li W.P., et al. Normal sorting but defective endocytosis of the low-density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia. J Biol Chem 278 (2003) 29024-29030
-
(2003)
J Biol Chem
, vol.278
, pp. 29024-29030
-
-
Jones, C.1
Hammer, R.E.2
Li, W.P.3
-
14
-
-
33644668412
-
Adaptor protein ARH is recruited to the plasma membrane by LDL binding and modulates endocytosis of the LDL/LDLR complex in hepatocytes
-
Sirinian M.I., Belleudi F., Campagna F., et al. Adaptor protein ARH is recruited to the plasma membrane by LDL binding and modulates endocytosis of the LDL/LDLR complex in hepatocytes. J Biol Chem 280 (2005) 38416-38423
-
(2005)
J Biol Chem
, vol.280
, pp. 38416-38423
-
-
Sirinian, M.I.1
Belleudi, F.2
Campagna, F.3
-
15
-
-
33748088504
-
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison
-
Pisciotta L., Oliva C.P., Pes G.M., et al. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. Atherosclerosis 188 (2006) 398-405
-
(2006)
Atherosclerosis
, vol.188
, pp. 398-405
-
-
Pisciotta, L.1
Oliva, C.P.2
Pes, G.M.3
-
16
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
18
-
-
0025186296
-
Molecular bases for cystic fibrosis in the Sardinian population
-
Leoni G.B., Rosatelli C., Sardu R., et al. Molecular bases for cystic fibrosis in the Sardinian population. Hum Genet 85 (1990) 415
-
(1990)
Hum Genet
, vol.85
, pp. 415
-
-
Leoni, G.B.1
Rosatelli, C.2
Sardu, R.3
-
19
-
-
0024493798
-
Two point mutations are responsible for G6PD polymorphism in Sardinia
-
De Vita G., Alcalay M., Sampietro M., et al. Two point mutations are responsible for G6PD polymorphism in Sardinia. Am J Hum Genet 44 (1989) 233-240
-
(1989)
Am J Hum Genet
, vol.44
, pp. 233-240
-
-
De Vita, G.1
Alcalay, M.2
Sampietro, M.3
-
20
-
-
2342454322
-
Autosomal recessive hypercholesterolemia: long-term follow-up and response to treatment
-
Naumova R.P., Neuwirth C., Lee P., et al. Autosomal recessive hypercholesterolemia: long-term follow-up and response to treatment. Atherosclerosis 174 (2004) 165-172
-
(2004)
Atherosclerosis
, vol.174
, pp. 165-172
-
-
Naumova, R.P.1
Neuwirth, C.2
Lee, P.3
-
21
-
-
7244243892
-
Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo
-
Harada-Shiba M., Takagi A., Marutsuka K., et al. Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo. Circ Res 95 (2004) 945-952
-
(2004)
Circ Res
, vol.95
, pp. 945-952
-
-
Harada-Shiba, M.1
Takagi, A.2
Marutsuka, K.3
-
22
-
-
33749455320
-
A single common portal for clathrin-mediated endocytosis of distinct cargo governed by cargo-selective adaptors
-
Keyel P.A., Mishra S.K., Roth R., et al. A single common portal for clathrin-mediated endocytosis of distinct cargo governed by cargo-selective adaptors. Mol Biol Cell 17 (2006) 4300-4317
-
(2006)
Mol Biol Cell
, vol.17
, pp. 4300-4317
-
-
Keyel, P.A.1
Mishra, S.K.2
Roth, R.3
-
23
-
-
33749487743
-
The adaptor protein Dab2 sorts LDL receptors into coated pits independently of AP-2 and ARH
-
Maurer M.E., and Cooper J.A. The adaptor protein Dab2 sorts LDL receptors into coated pits independently of AP-2 and ARH. J Cell Sci 119 (2006) 4235-4246
-
(2006)
J Cell Sci
, vol.119
, pp. 4235-4246
-
-
Maurer, M.E.1
Cooper, J.A.2
-
24
-
-
35548984932
-
Adaptor protein disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia
-
Eden E.R., Sun X.M., Patel D.D., and Soutar A.K. Adaptor protein disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia. Hum Mol Genet 16 (2007) 2751-2759
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2751-2759
-
-
Eden, E.R.1
Sun, X.M.2
Patel, D.D.3
Soutar, A.K.4
-
25
-
-
0035099375
-
Disabled-2 colocalizes with the LDLR in clathrin-coated pits and interacts with AP-2
-
Morris S.M., and Cooper J.A. Disabled-2 colocalizes with the LDLR in clathrin-coated pits and interacts with AP-2. Traffic 2 (2001) 111-123
-
(2001)
Traffic
, vol.2
, pp. 111-123
-
-
Morris, S.M.1
Cooper, J.A.2
-
26
-
-
0037119952
-
Disabled-2 exhibits the properties of a cargo-selective endocytic clathrin adaptor
-
Mishra S.K., Keyel P.A., Hawryluk M.J., et al. Disabled-2 exhibits the properties of a cargo-selective endocytic clathrin adaptor. EMBO J 21 (2002) 4915-4926
-
(2002)
EMBO J
, vol.21
, pp. 4915-4926
-
-
Mishra, S.K.1
Keyel, P.A.2
Hawryluk, M.J.3
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