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INBORNERRORS OFSTEROLBIOSYNTHESIS
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| Zeitschriftentitel: | Annual Review of Genomics and Human Genetics |
|---|---|
| Personen und Körperschaften: | , |
| In: | Annual Review of Genomics and Human Genetics, 2, 2001, 1, S. 299-341 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Annual Reviews
|
| Schlagwörter: |
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Kelley, Richard I. Herman, Gail E. Kelley, Richard I. Herman, Gail E. |
|---|---|
| author |
Kelley, Richard I. Herman, Gail E. |
| spellingShingle |
Kelley, Richard I. Herman, Gail E. Annual Review of Genomics and Human Genetics INBORNERRORS OFSTEROLBIOSYNTHESIS Genetics (clinical) Genetics Molecular Biology |
| author_sort |
kelley, richard i. |
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Kelley, Richard I. Herman, Gail E. 1527-8204 1545-293X Annual Reviews Genetics (clinical) Genetics Molecular Biology http://dx.doi.org/10.1146/annurev.genom.2.1.299 <jats:p>▪ Abstract The known disorders of cholesterol biosynthesis have expanded rapidly since the discovery that Smith-Lemli-Opitz syndrome is caused by a deficiency of 7-dehydrocholesterol. Each of the six now recognized sterol disorders—mevalonic aciduria, Smith-Lemli-Opitz syndrome, desmosterolosis, Conradi-Hünermann syndrome, CHILD syndrome, and Greenberg dysplasia—has added to our knowledge of the relationship between cholesterol metabolism and embryogenesis. One of the most important lessons learned from the study of these disorders is that abnormal cholesterol metabolism impairs the function of the hedgehog class of embryonic signaling proteins, which help execute the vertebrate body plan during the earliest weeks of gestation. The study of the enzymes and genes in these several syndromes has also expanded and better delineated an important class of enzymes and proteins with diverse structural functions and metabolic actions that include sterol biosynthesis, nuclear transcriptional signaling, regulation of meiosis, and even behavioral modulation.</jats:p> I<scp>NBORN</scp>E<scp>RRORS OF</scp>S<scp>TEROL</scp>B<scp>IOSYNTHESIS</scp> Annual Review of Genomics and Human Genetics |
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Annual Reviews, 2001 |
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Annual Reviews, 2001 |
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INBORNERRORS OFSTEROLBIOSYNTHESIS |
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INBORNERRORS OFSTEROLBIOSYNTHESIS |
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INBORNERRORS OFSTEROLBIOSYNTHESIS |
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INBORNERRORS OFSTEROLBIOSYNTHESIS |
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INBORNERRORS OFSTEROLBIOSYNTHESIS |
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i<scp>nborn</scp>e<scp>rrors of</scp>s<scp>terol</scp>b<scp>iosynthesis</scp> |
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Genetics (clinical) Genetics Molecular Biology |
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http://dx.doi.org/10.1146/annurev.genom.2.1.299 |
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2001 |
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299-341 |
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<jats:p>▪ Abstract The known disorders of cholesterol biosynthesis have expanded rapidly since the discovery that Smith-Lemli-Opitz syndrome is caused by a deficiency of 7-dehydrocholesterol. Each of the six now recognized sterol disorders—mevalonic aciduria, Smith-Lemli-Opitz syndrome, desmosterolosis, Conradi-Hünermann syndrome, CHILD syndrome, and Greenberg dysplasia—has added to our knowledge of the relationship between cholesterol metabolism and embryogenesis. One of the most important lessons learned from the study of these disorders is that abnormal cholesterol metabolism impairs the function of the hedgehog class of embryonic signaling proteins, which help execute the vertebrate body plan during the earliest weeks of gestation. The study of the enzymes and genes in these several syndromes has also expanded and better delineated an important class of enzymes and proteins with diverse structural functions and metabolic actions that include sterol biosynthesis, nuclear transcriptional signaling, regulation of meiosis, and even behavioral modulation.</jats:p> |
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| description | <jats:p>▪ Abstract The known disorders of cholesterol biosynthesis have expanded rapidly since the discovery that Smith-Lemli-Opitz syndrome is caused by a deficiency of 7-dehydrocholesterol. Each of the six now recognized sterol disorders—mevalonic aciduria, Smith-Lemli-Opitz syndrome, desmosterolosis, Conradi-Hünermann syndrome, CHILD syndrome, and Greenberg dysplasia—has added to our knowledge of the relationship between cholesterol metabolism and embryogenesis. One of the most important lessons learned from the study of these disorders is that abnormal cholesterol metabolism impairs the function of the hedgehog class of embryonic signaling proteins, which help execute the vertebrate body plan during the earliest weeks of gestation. The study of the enzymes and genes in these several syndromes has also expanded and better delineated an important class of enzymes and proteins with diverse structural functions and metabolic actions that include sterol biosynthesis, nuclear transcriptional signaling, regulation of meiosis, and even behavioral modulation.</jats:p> |
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| physical | 299-341 |
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| series | Annual Review of Genomics and Human Genetics |
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| spelling | Kelley, Richard I. Herman, Gail E. 1527-8204 1545-293X Annual Reviews Genetics (clinical) Genetics Molecular Biology http://dx.doi.org/10.1146/annurev.genom.2.1.299 <jats:p>▪ Abstract The known disorders of cholesterol biosynthesis have expanded rapidly since the discovery that Smith-Lemli-Opitz syndrome is caused by a deficiency of 7-dehydrocholesterol. Each of the six now recognized sterol disorders—mevalonic aciduria, Smith-Lemli-Opitz syndrome, desmosterolosis, Conradi-Hünermann syndrome, CHILD syndrome, and Greenberg dysplasia—has added to our knowledge of the relationship between cholesterol metabolism and embryogenesis. One of the most important lessons learned from the study of these disorders is that abnormal cholesterol metabolism impairs the function of the hedgehog class of embryonic signaling proteins, which help execute the vertebrate body plan during the earliest weeks of gestation. The study of the enzymes and genes in these several syndromes has also expanded and better delineated an important class of enzymes and proteins with diverse structural functions and metabolic actions that include sterol biosynthesis, nuclear transcriptional signaling, regulation of meiosis, and even behavioral modulation.</jats:p> I<scp>NBORN</scp>E<scp>RRORS OF</scp>S<scp>TEROL</scp>B<scp>IOSYNTHESIS</scp> Annual Review of Genomics and Human Genetics |
| spellingShingle | Kelley, Richard I., Herman, Gail E., Annual Review of Genomics and Human Genetics, INBORNERRORS OFSTEROLBIOSYNTHESIS, Genetics (clinical), Genetics, Molecular Biology |
| title | INBORNERRORS OFSTEROLBIOSYNTHESIS |
| title_full | INBORNERRORS OFSTEROLBIOSYNTHESIS |
| title_fullStr | INBORNERRORS OFSTEROLBIOSYNTHESIS |
| title_full_unstemmed | INBORNERRORS OFSTEROLBIOSYNTHESIS |
| title_short | INBORNERRORS OFSTEROLBIOSYNTHESIS |
| title_sort | i<scp>nborn</scp>e<scp>rrors of</scp>s<scp>terol</scp>b<scp>iosynthesis</scp> |
| title_unstemmed | INBORNERRORS OFSTEROLBIOSYNTHESIS |
| topic | Genetics (clinical), Genetics, Molecular Biology |
| url | http://dx.doi.org/10.1146/annurev.genom.2.1.299 |