| Mitochondrial dysfunction in skeletal muscle of fukutin-deficient mice is resistant to exercise- and 5-aminoimidazole-4-carboxamide ribonucleotide-induced rescue. | Mitochondrial dysfunction in skeletal muscle of fukutin-deficient mice is resistant to exercise- and 5-aminoimidazole-4-carboxamide ribonucleotide-induced rescue.
Southern WM, Nichenko AS, Qualls AE, Portman K, Gidon A, Beedle AM, Call JA., Free PMC Article | 10/23/2021 |
| Study shows molecular pathogenesis of muscular dystrophy-associated cardiomyopathy in mice lacking the Fktn gene. Although cardiac Fktn elimination markedly reduced alpha-dystroglycan glycosylation and dystrophin-glycoprotein complex proteins in sarcolemma at all developmental stages, cardiac dysfunction was observed only in later adulthood, suggesting that membrane fragility is not the sole etiology of cardiac dysfunc... | Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure.
Ujihara Y, Kanagawa M, Mohri S, Takatsu S, Kobayashi K, Toda T, Naruse K, Katanosaka Y., Free PMC Article | 04/11/2020 |
| Rapamycin treatment in fukutin-deficient mouse model of dystroglycanopathy delays/reduces disease burden. | Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy.
Foltz SJ, Luan J, Call JA, Patel A, Peissig KB, Fortunato MJ, Beedle AM., Free PMC Article | 10/8/2016 |
| Fktn deficient mice express moderate to severe muscular dystrophy; glycosylated alpha-dystroglycan has a unique role in muscle regeneration in these mice | Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice.
Foltz SJ, Modi JN, Melick GA, Abousaud MI, Luan J, Fortunato MJ, Beedle AM., Free PMC Article | 07/30/2016 |
| Mouse fukutin deletion impairs dystroglycan processing, recapitulates muscular dystrophy and is relevant to modifications near the dystroglycan O-mannose sugar. | Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy.
Beedle AM, Turner AJ, Saito Y, Lueck JD, Foltz SJ, Fortunato MJ, Nienaber PM, Campbell KP., Free PMC Article | 11/24/2012 |
| disease-causing missense mutations cause abnormal folding and localization of fukutin protein | Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
Tachikawa M, Kanagawa M, Yu CC, Kobayashi K, Toda T., Free PMC Article | 05/5/2012 |
| the highly hydrophobic transmembrane domain of Fukutin-1 was purified; the identity of the peptide and revealed that in hydrophobic solvents mimicking the bilayer, the peptide adopts a well-structured alpha-helix as predicted from the sequence. | Expression and purification of the transmembrane domain of Fukutin-I for biophysical studies.
Marius P, Wright JN, Findlow IS, Williamson PT., Free PMC Article | 07/19/2010 |
| From these findings, we propose that fukutin forms a complex with POMGnT1 and may modulate its enzymatic activity. | Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.
Xiong H, Kobayashi K, Tachikawa M, Manya H, Takeda S, Chiyonobu T, Fujikake N, Wang F, Nishimoto A, Morris GE, Nagai Y, Kanagawa M, Endo T, Toda T. | 01/21/2010 |
| These results support the hypothesis that fukutin is involved in the glycosylation process of alpha-DG and that a defect in this process plays an essential role in the pathogenesis of FCMD. | Co-localization of fukutin and alpha-dystroglycan in the mouse central nervous system.
Ohtsuka-Tsurumi E, Saito Y, Yamamoto T, Voit T, Kobayashi M, Osawa M. | 01/21/2010 |
| Fukuyama-type congenital muscular dystrophy (FCMD) murine ortholog, Fcmd is 90% identical to that of its human counterpart | Isolation and characterization of the mouse ortholog of the Fukuyama-type congenital muscular dystrophy gene.
Horie M, Kobayashi K, Takeda S, Nakamura Y, Lyons GE, Toda T. | 01/21/2010 |
| fukutin plays crucial roles in the myelination of peripheral nerve and formation of neuromuscular junction. suggest that defective glycosylation of alpha-dystroglycan may play a role in the impairment of these processes in the deficiency of fukutin. | Defective peripheral nerve myelination and neuromuscular junction formation in fukutin-deficient chimeric mice.
Saito F, Masaki T, Saito Y, Nakamura A, Takeda S, Shimizu T, Toda T, Matsumura K. | 01/21/2010 |
| The basal lamina of the cortical surface in chimeras showed defects at E14, coinciding with the earliest time point at which ectopia were detected | Effects of fukutin deficiency in the developing mouse brain.
Chiyonobu T, Sasaki J, Nagai Y, Takeda S, Funakoshi H, Nakamura T, Sugimoto T, Toda T. | 01/21/2010 |
| Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the FCMD locus, in three Tunisian patients | Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.
Triki C, Louhichi N, Méziou M, Choyakh F, Kéchaou MS, Jlidi R, Mhiri C, Fakhfakh F, Ayadi H. | 01/21/2010 |