serine has been researched along with Apolipoprotein C-II Deficiency in 6 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Familial LPL deficiency is a rare, autosomal-recessive disorder of lipoprotein metabolism that is characterized by severe hypertriglyceridemia with episodes of abdominal pain, acute pancreatitis and eruptive cutaneous xanthomatosis." | 1.35 | Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency. ( Burnett, JR; Hooper, AJ, 2009) |
| "Although familial chylomicronemia is observed in Morocco, the molecular basis for the disease remains unknown." | 1.30 | A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry. ( Benlian, P; Bruin, T; De Gennes, JL; Ehrenborg, E; Foubert, L; Furioli, J; Hayden, M; Kastelein, J, 1997) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 5 (83.33) | 18.2507 |
| 2000's | 1 (16.67) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Burnett, JR | 1 |
| Hooper, AJ | 1 |
| Bijvoet, SM | 1 |
| Wiebusch, H | 1 |
| Ma, Y | 1 |
| Reymer, PW | 1 |
| Bruin, T | 2 |
| Bakker, HD | 1 |
| Funke, H | 1 |
| Assmann, G | 1 |
| Hayden, MR | 1 |
| Kastelein, JJ | 1 |
| Foubert, L | 1 |
| De Gennes, JL | 1 |
| Ehrenborg, E | 1 |
| Furioli, J | 1 |
| Kastelein, J | 1 |
| Benlian, P | 1 |
| Hayden, M | 1 |
| Kobayashi, J | 1 |
| Nishida, T | 1 |
| Ameis, D | 1 |
| Stahnke, G | 1 |
| Schotz, MC | 1 |
| Hashimoto, H | 1 |
| Fukamachi, I | 1 |
| Shirai, K | 1 |
| Saito, Y | 1 |
| Yoshida, S | 1 |
| Faustinella, F | 1 |
| Chang, A | 1 |
| Van Biervliet, JP | 1 |
| Rosseneu, M | 1 |
| Vinaimont, N | 1 |
| Smith, LC | 1 |
| Chen, SH | 1 |
| Chan, L | 1 |
| Hata, A | 1 |
| Emi, M | 1 |
| Luc, G | 1 |
| Basdevant, A | 1 |
| Gambert, P | 1 |
| Iverius, PH | 1 |
| Lalouel, JM | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| A Study to Determine the Safety and Efficacy in Lipoprotein Lipase-Deficient Subjects After Intramuscular Administration of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein LipaseS447X[NCT01109498] | Phase 2/Phase 3 | 14 participants (Actual) | Interventional | 2007-08-31 | Active, not recruiting | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
6 other studies available for serine and Apolipoprotein C-II Deficiency
| Article | Year |
|---|---|
Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency.
Topics: Animals; Clinical Trials as Topic; Dependovirus; Disease Models, Animal; Drug Evaluation, Preclinica | 2009 |
Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency.
Topics: Adolescent; Asparagine; Aspartic Acid; Cysteine; Denmark; DNA; Heterozygote; Humans; Hyperlipoprotei | 1996 |
A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.
Topics: Adolescent; Adult; Arginine; Child; Chylomicrons; Female; Founder Effect; Humans; Hyperlipoproteinem | 1997 |
A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia.
Topics: Adipose Tissue; Adolescent; Amino Acid Sequence; Base Sequence; Codon; DNA; Female; Genetic Carrier | 1992 |
Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family.
Topics: Adipose Tissue; Alleles; Aspartic Acid; Base Sequence; Catalysis; DNA; Glycine; Humans; Hyperlipopro | 1991 |
Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.
Topics: Amino Acid Sequence; Apolipoproteins; Base Sequence; Child; Cloning, Molecular; DNA; DNA Mutational | 1990 |