Results 11 to 20 of about 23,617 (228)

Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome. [PDF]

Mol Genet Metab Rep, 2015
Smith Lemli Opitz syndrome (SLOS) is an inherited malformation and mental retardation metabolic disorder with no cure. Mutations in the last enzyme of the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (DHCR7), lead to cholesterol ...
Pasta S, Akhile O, Tabron D, Ting F, Shackleton C, Watson G.   +5 more
europepmc   +2 more sources

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene [PDF]

The American Journal of Human Genetics, 1998
Smith-Lemli-Opitz syndrome is a frequently occurring autosomal recessive developmental disorder characterized by facial dysmorphisms, mental retardation, and multiple congenital anomalies. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the final step in the cholesterol-biosynthesis pathway-
Waterham, H.R., Wijburg, F.A., Hennekam, R.C.M., Vreken, P., Poll-The, B.T., Dorland, L., Duran, M., Jira, P.E., Smeitink, J.A.M., Wevers, R.A., Wanders, R.J.   +10 more
openaire   +9 more sources

Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase [PDF]

Development, 2006
Cholesterol regulates Hedgehog (Hh) signaling during early vertebrate development. Smith-Lemli-Opitz syndrome (SLOS) is caused by defects in 7-dehydrocholesterol reductase (DHCR7), an enzyme catalyzing the final step of cholesterol biosynthesis. Many developmental malformations attributed to SLOS occur in tissues and organs where Hh signaling is ...
Tetsuya, Koide, Tadayoshi, Hayata, Ken W Y, Cho   +2 more
openaire   +3 more sources

First Trimester Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome(7-Dehydrocholesterol Reductase Deficiency) [PDF]

Pediatric Research, 1996
In Smith-Lemli-Opitz syndrome (SLOs), 7-dehydrocholesterol (7-DHC) accumulated because there is a block in the pathway for synthesis of cholesterol via 7-DHC. Prenatal diagnosis of SLOs has been achieved by analysis of 7-DHC in amniotic fluid obtained at 16-18 wk from pregnancies at risk.
K, Mills, H, Mandel, R, Montemagno, P, Soothill, R, Gershoni-Baruch, P T, Clayton   +5 more
openaire   +3 more sources

A dual role for 7-dehydrocholesterol reductase in regulating Hedgehog signalling? [PDF]

Development, 2006
In a recent paper published in Development , Koide et al. provide evidence for a negative regulatory action of 7-dehydrocholesterol reductase (DCHR7) on the Hedgehog pathway ([Koide et al., 2006][1]).
Bijlsma, Maarten F., Peppelenbosch, Maikel P., Spek, C. Arnold   +2 more
openaire   +2 more sources

Novel mutations in the 7‐dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome [PDF]

Annals of Human Genetics, 2001
Smith–Lemli–Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene leading to deficient activity of 7‐dehydrocholesterol reductase (DHCR7; EC 1.3.1.21), the final enzyme of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursor 7‐dehydrocholesterol in plasma and tissues. We here report
Jira, P.E., Wanders, R.J., Smeitink, J.A.M., Jong, J. de, Wevers, R.A., Oostheim, W., Tuerlings, J.H.A.M., Hennekam, R.C.M., Sengers, R.C.A., Waterham, H.R.   +9 more
openaire   +4 more sources

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings. [PDF]

Genes (Basel)
Biallelic pathogenic variants in DHCR7 result in decreased activity of 7-dehydrocholesterol (7-DHC) reductase, which converts 7-DHC to cholesterol, and causes Smith–Lemli–Opitz syndrome (SLOS).
Hackl L, Haberlandt E, Müller T, Piribauer S, Garczarczyk-Asim D, Zöggeler T, Karall D, Zschocke J, Janecke AR.   +8 more
europepmc   +2 more sources

Cholesterol homeostasis in development: The role of Xenopus 7‐dehydrocholesterol reductase (Xdhcr7) in neural development [PDF]

Developmental Dynamics, 2006
Abstract7‐dehydrocholesterol reductase (7‐Dhcr) catalyses the final step in the pathway of cholesterol biosynthesis. Human patients with inborn errors of 7‐Dhcr (Smith‐Lemli‐Opitz‐Syndrome) have elevated serum levels of 7‐dehydrocholesterol but low levels of cholesterol, which in phenotypical terms can result in growth retardation, craniofacial ...
Emmanuel, Tadjuidje, Thomas, Hollemann
openaire   +3 more sources

Downmodulation of cholesterol biosynthetic network governs activation of the innate immune response to Japanese encephalitis virus infection [PDF]

Journal of Virology
Viruses remodel metabolic processes and utilize host lipids for different stages of their life cycle. Our earlier studies have shown that the flavivirus Japanese encephalitis virus (JEV) downmodulates several key proteins involved in sterol and lipid ...
Sakshi Khera, Kiran Bala Sharma, Yashwant Kumar, Manjula Kalia   +3 more
doaj   +2 more sources

[Influence of 7-dehydrocholesterol reductase gene silencing on the fusion of mouse palatal shelves]. [PDF]

Hua Xi Kou Qiang Yi Xue Za Zhi, 2015
RNA interference was applied to knockdown the Dhcr7 gene in mouse embryonic palatal shelves to facilitate understanding of the function of Dhcr7 gene variants in the fusion of palatal shelves.The pAdTrack-CMV-siDhcr7 was constructed using the specific siRNA sequence of Dhcr7 from C57BL/6J mouse.
Wenlin X, Cuizhu Z, Yan S, Yaoxiang X, Lingfa X.   +4 more
europepmc   +3 more sources