alanine has been researched along with Oculopharyngeal Dystrophy in 12 studies
Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Oculopharyngeal muscular dystrophy is a late-onset disease caused by an elongation of a natural 10-alanine segment within the N-terminal domain of the nuclear poly(A)-binding protein 1 (PABPN1) to maximally 17 alanines." | 1.38 | Polyalanine-independent conformational conversion of nuclear poly(A)-binding protein 1 (PABPN1). ( Hause, G; Kühn, U; Schwarz, E; Winter, R, 2012) |
| "Oculopharyngeal muscular dystrophy is a neuromuscular disease usually presenting in the 5th or 6th decades of life with a dominant inheritance pattern." | 1.37 | Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation. ( Hildebrand, GD; Hilton-Jones, D; Mansfield, D; Marks, S; Mechan, D; Ramsay, J; Robinson, DO, 2011) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 4 (33.33) | 29.6817 |
| 2010's | 6 (50.00) | 24.3611 |
| 2020's | 2 (16.67) | 2.80 |
| Authors | Studies |
|---|---|
| Takahashi, Y | 1 |
| Morimoto, N | 1 |
| Nada, T | 1 |
| Morimoto, M | 1 |
| Eura, N | 1 |
| Minami, N | 1 |
| Nishino, I | 1 |
| Guan, WL | 1 |
| Jiang, LL | 1 |
| Yin, XF | 1 |
| Hu, HY | 1 |
| Banerjee, A | 1 |
| Phillips, BL | 1 |
| Deng, Q | 1 |
| Seyfried, NT | 1 |
| Pavlath, GK | 1 |
| Vest, KE | 1 |
| Corbett, AH | 1 |
| Winter, R | 2 |
| Liebold, J | 1 |
| Schwarz, E | 5 |
| Raz, V | 1 |
| Sterrenburg, E | 1 |
| Routledge, S | 1 |
| Venema, A | 1 |
| van der Sluijs, BM | 1 |
| Trollet, C | 1 |
| Dickson, G | 1 |
| van Engelen, BG | 1 |
| van der Maarel, SM | 1 |
| Antoniou, MN | 1 |
| Jouan, L | 1 |
| Rocheford, D | 1 |
| Szuto, A | 1 |
| Carney, E | 1 |
| David, K | 1 |
| Dion, PA | 1 |
| Rouleau, GA | 1 |
| Robinson, DO | 1 |
| Hilton-Jones, D | 1 |
| Mansfield, D | 1 |
| Hildebrand, GD | 1 |
| Marks, S | 1 |
| Mechan, D | 1 |
| Ramsay, J | 1 |
| Kühn, U | 2 |
| Hause, G | 2 |
| Uyama, E | 1 |
| Hino, H | 1 |
| Araki, K | 1 |
| Takeya, M | 1 |
| Uchino, M | 1 |
| Yamamura, K | 1 |
| Lodderstedt, G | 3 |
| Hess, S | 1 |
| Scheuermann, T | 1 |
| Scheibel, T | 1 |
| Sachs, R | 1 |
| Faust, J | 1 |
| Bordusa, F | 1 |
| Golbik, R | 1 |
| Kerth, A | 1 |
| Wahle, E | 1 |
| Balbach, J | 1 |
| Sackewitz, M | 1 |
| Scheidt, HA | 1 |
| Schierhorn, A | 1 |
| Huster, D | 1 |
1 review available for alanine and Oculopharyngeal Dystrophy
| Article | Year |
|---|---|
The unresolved puzzle why alanine extensions cause disease.
Topics: Alanine; Amyloid; Animals; Humans; Muscular Dystrophy, Oculopharyngeal; Poly(A)-Binding Protein I; P | 2013 |
11 other studies available for alanine and Oculopharyngeal Dystrophy
| Article | Year |
|---|---|
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.
Topics: Aged; Alanine; Glycine; Humans; Male; Muscular Dystrophy, Oculopharyngeal; Point Mutation; Poly(A)-B | 2023 |
PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.
Topics: Alanine; Humans; Muscular Dystrophy, Oculopharyngeal; Poly(A)-Binding Protein I; Polyadenylation; RN | 2023 |
Proteomic analysis reveals that wildtype and alanine-expanded nuclear poly(A)-binding protein exhibit differential interactions in skeletal muscle.
Topics: Alanine; Animals; Cells, Cultured; DNA-Binding Proteins; Electroporation; Female; Male; Mice; Molecu | 2019 |
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.
Topics: Age Factors; Alanine; Animals; Cell Nucleolus; Cells, Cultured; Collagen; Disease Models, Animal; Do | 2013 |
An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy.
Topics: Alanine; Female; Humans; Middle Aged; Muscular Dystrophy, Oculopharyngeal; Pedigree; Severity of Ill | 2014 |
Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.
Topics: Aged; Alanine; DNA Mutational Analysis; Female; Glycine; Humans; Male; Muscle, Skeletal; Muscular Dy | 2011 |
Polyalanine-independent conformational conversion of nuclear poly(A)-binding protein 1 (PABPN1).
Topics: Alanine; Amyloidosis; Escherichia coli; Humans; Muscular Dystrophy, Oculopharyngeal; Poly(A)-Binding | 2012 |
Animal model of oculopharyngeal muscular dystrophy.
Topics: Actins; Alanine; Animals; Disease Models, Animal; Inclusion Bodies; Mice; Mice, Transgenic; Muscle, | 2005 |
Effect of oculopharyngeal muscular dystrophy-associated extension of seven alanines on the fibrillation properties of the N-terminal domain of PABPN1.
Topics: Alanine; Chromatography, High Pressure Liquid; Humans; Kinetics; Microscopy, Atomic Force; Muscular | 2007 |
Hofmeister salts and potential therapeutic compounds accelerate in vitro fibril formation of the N-terminal domain of PABPN1 containing a disease-causing alanine extension.
Topics: Alanine; Chromatography, High Pressure Liquid; Circular Dichroism; Kinetics; Muscular Dystrophy, Ocu | 2008 |
Structural and dynamical characterization of fibrils from a disease-associated alanine expansion domain using proteolysis and solid-state NMR spectroscopy.
Topics: Alanine; Amyloid; Humans; Muscular Dystrophy, Oculopharyngeal; Nuclear Magnetic Resonance, Biomolecu | 2008 |