1 ular dystrophy (FCMD) is due to mutations in
fukutin,
a putative phospholigand transferase.
2 To elucidate the function of FKRP and
fukutin and examine the effects of MDC1C patient mutatio
3 Our findings suggest that
fukutin and FKRP have functions that affect ocular devel
4 The eye size was also smaller in the
fukutin and FKRP morphants when compared with dystroglyc
5 t, the eye vasculature was distorted in both
fukutin and FKRP morphants, but not in dystroglycan morp
6 s is the first study investigating a role of
fukutin and FKRP-mediated glycosylation in angiogenesis.
7 Fukutin and fukutin-related protein (FKRP) are involved
8 tions in putative glycosyltransferase genes,
fukutin and fukutin-related protein (fkrp), lead to a wi
9 encoding two putative glycosyltransferases,
fukutin and fukutin-related protein (FKRP).
10 types associated with POMT1, POMT2, POMGnT1,
fukutin and LARGE mutations.
11 ened for mutations in POMT1, POMT2, POMGnT1,
fukutin and LARGE.
12 In contrast mutations in
fukutin and POMGnT1 were detected in four patients with
13 Zebrafish Large, POMT1, POMT2, POMGnT1,
Fukutin,
and FKRP show in situ hybridization patterns si
14 disorders have shown that the generation of
fukutin-
and Pomt1-deficient knockout mice results in ea
15 Our data show that FKRP and
fukutin are Golgi-resident proteins and that FKRP is req
16 FKRP and
fukutin are targeted to the medial-Golgi apparatus throu
17 the PC transferase could be a member of the
fukutin family (fukutin refers to the mutated gene produ
18 ion dystroglycan allele and by inhibition of
Fukutin family protein activities.
19 Together, our results suggest that
Fukutin family proteins may play important roles in prot
20 gonucleotides that blocked the expression of
fukutin,
FKRP and dystroglycan.
21 into a dystroglycanopathy mouse model due to
Fukutin (
Fktn) knock-out indicated a dose-dependent toxi
22 -specific promoters to conditionally disrupt
fukutin (
Fktn), a gene required for dystroglycan process
23 ith cobblestone complex, and mutation in the
fukutin gene.
24 tation of the short 36-residue N-terminus of
fukutin-
I (FK1TMD) in lipids with differing tail lengths
25 The N-terminal domain of
fukutin-
I has been implicated in the localization of the
26 In general, the
fukutin morphant fish had the most severe skeletal muscl
27 aly, not previously reported associated with
fukutin mutations.
28 pand the geographic and clinical spectrum of
fukutin mutations.
29 how that muscle pathology in embryos lacking
Fukutin or FKRP is different from loss of dystroglycan.
30 lycosylated alpha-dystroglycan, knockdown of
Fukutin or FKRP leads to a notochord defect and a pertur
31 migration defects, result from mutations in
fukutin,
POMGnT1 and POMT1, respectively, while mutation
32 atients with mutations in the genes encoding
fukutin,
protein O-linked mannose beta1,2-N-acetylglucos
33 ase could be a member of the fukutin family (
fukutin refers to the mutated gene product that causes F
34 Mutations in
fukutin related protein (FKRP) are responsible for a com
35 We recently identified mutations in the
fukutin related protein (FKRP) gene in patients with con
36 olved in the alpha-DG glycosylation process,
fukutin related protein (FKRP) gene mutations generate a
37 lar dystrophy, is caused by mutations in the
Fukutin Related Protein (FKRP) gene.
38 e describe 22 patients with mutations in the
fukutin-
related protein (FKPR) gene.
39 Fukutin and
fukutin-
related protein (FKRP) are involved in the glyco
40 Mutations in
fukutin-
related protein (FKRP) are responsible for a com
41 Mutations in
fukutin-
related protein (FKRP) cause a common subset of
42 Mutations in the gene encoding
fukutin-
related protein (FKRP) cause a spectrum of disea
43 Mutations in
fukutin-
related protein (FKRP) gene are characterized wi
44 POMT1, respectively, while mutations in the
fukutin-
related protein (FKRP) gene cause congenital mus
45 hy 2I (LGMD2I) is caused by mutations in the
fukutin-
related protein (FKRP) gene.
46 Mutations in
fukutin-
related protein (FKRP) give rise to mild and mor
47 ion of the putative glycosyltransferase gene
fukutin-
related protein (FKRP) on embryonic development.
48 Mutations in
fukutin-
related protein (FKRP) underlie a group of muscu
49 Fukutin-
related protein (FKRP) was identified as a homol
50 ative glycosyltransferase genes, fukutin and
fukutin-
related protein (fkrp), lead to a wide range of
51 being due to mutations in the gene-encoding
fukutin-
related protein (FKRP).
52 o putative glycosyltransferases, fukutin and
fukutin-
related protein (FKRP).
53 We have recently demonstrated that the
fukutin-
related protein gene (FKRP) is mutated in a seve
54 ,2-N-acetylglucosaminyltransferase 1 and the
fukutin-
related protein has been significantly expanded.
55 ents with mutations in the gene encoding the
fukutin-
related protein varies from a severe prenatal fo
56 Fukutin-
related protein-muscular dystrophy is characteri
57 this alliance treatment of the two drugs for
fukutin-
related protein-muscular dystrophy.
58 The FCMD gene,
fukutin,
shares some homology with fringe-like glycosylt
59 rotein (FKRP) was identified as a homolog of
fukutin,
the defective protein in Fukuyama-type congenit
60 with eight cases, POMGnT1 with seven cases,
fukutin with six cases and LARGE with only a single case