戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (left1)

通し番号をクリックするとPubMedの該当ページを表示します
1                                              GNE (UDP-GlcNAc 2-epimerase/ManNAc kinase) myopathy is a
2                                              GNE deficiency may affect levels of UDP-GlcNAc, a key me
3                                              GNE harbors two enzymatic activities required for biosyn
4                                              GNE myopathy is a rare recessive myopathy associated wit
5                                              GNE Myopathy is a rare recessively inherited neuromuscul
6                                              GNE myopathy is an autosomal recessive muscle disease ca
7                                              GNE myopathy is an important diagnosis to consider in pa
8                                              GNE-6640 and GNE-6776 interact with acidic residues that
9                                              GNE-KLH (keyhole limpet hemocyannin) was found to elicit
10                             Lead compound 1 (GNE-783), the prototype of the 1,7-diazacarbazole class
11                                Compounds 19 (GNE-900) and 30 (GNE-145) were identified as selective,
12 is effort culminated in the discovery of 20 (GNE-555), a highly potent, selective, metabolically stab
13       The lead compounds 5 (GNE-493) and 21 (GNE-490) have good pharmacokinetic (PK) parameters, are
14               Compounds 19 (GNE-900) and 30 (GNE-145) were identified as selective, orally bioavailab
15                        The lead compounds 5 (GNE-493) and 21 (GNE-490) have good pharmacokinetic (PK)
16               However, little is known about GNE myopathy in Europe where the prevalence is thought t
17                                        Acute GNE-7883 treatment abrogates YAP-TEAD binding and attenu
18 caine (dAd5GNE), based on the cocaine analog GNE linked to the capsid proteins of a serotype 5 adenov
19 he rapid identification of GNE-0877 (11) and GNE-9605 (20) as highly potent and selective LRRK2 inhib
20                                 GNE-6640 and GNE-6776 interact with acidic residues that mediate hydr
21  Structural studies reveal that GNE-6640 and GNE-6776 non-covalently target USP7 12 A distant from th
22 nt of selective USP7 inhibitors GNE-6640 and GNE-6776.
23 d with HMN/CMT2 (ARHGEF28, KBTBD13, AGRN and GNE); in genes previously associated with HMN/CMT2 but i
24 ous than two CBP/p300 inhibitors CCS1477 and GNE-049 and the AR antagonist Enzalutamide.
25 scovery of small molecule inhibitors such as GNE-7915 (18) and 19, which possess an ideal balance of
26                            Mutations to both GNE domains are linked to GNE myopathy.
27 alic acid metabolism, that are influenced by GNE.
28        Notably, N-linked glycans produced by GNE-deficient cells displayed enhanced binding to galect
29     The most advanced delta-sultam compound, GNE-3500 (27, 1-{4-[3-fluoro-4-((3S,6R)-3-methyl-1,1-dio
30 f these, GNE-235, and its enantiomer control GNE-234 are suggested for initial cellular investigation
31 c siRNAs specifically targeting the dominant GNE mutation c.797G>A (p.R266Q) in sialuria fibroblasts.
32 sociated with mutations in titin, dysferlin, GNE, desmin and myosin.
33 s S-nitrosylation, accounts for the enhanced GNE that we have observed and that has been previously o
34  nitrosylation of Ras might lead to enhanced GNE.
35 O2 mediates Ras guanine nucleotide exchange (GNE) by conversion of Ras-bound GDP into an unstable 5-n
36 hown to promote guanine nucleotide exchange (GNE) on Ras and increase cellular Ras-GTP levels, but th
37 actions and Ras-guanine nucleotide exchange (GNE).
38 xpanded; GE) and without (gene-not-expanded; GNE) the trinucleotide cytosine, adenine, guanine (CAG)
39 perfamily GTPases, as NO/O2 also facilitates GNE on the redox-active Rap1A and Rab3A GTPases.
40  that targets the TEAD transcription factor, GNE-7883, to overcome resistance to KRAS inhibitors.
41 udies for their potential as a treatment for GNE myopathy.
42                                 Furthermore, GNE deficiency and glucose supplementation acted indepen
43                        A cocaine-like hapten GNE and a cocaine transition-state analogue GNT were use
44 tion to the three previously described human GNE isoforms (hGNE1-hGNE3), our database and polymerase
45 ulated, in hyposialylated muscles from human GNE myopathy patients and model mice.
46 unctional and regulatory mechanisms of human GNE and may contribute to further elucidating the pathol
47 izing disease-causing mutations in the human GNE gene that give rise to sialuria, hereditary inclusio
48 hology and treatment strategies of the human GNE-opathies sialuria and hereditary inclusion body myop
49 e is diminished SWV and muscle anisotropy in GNE-related myopathy.
50 ng to galectin-1, indicating that changes in GNE activity can alter affinity of cell-surface glycopro
51 latform to address substrate deficiencies in GNE myopathy and other CDGs.
52 n ManNAc at increasing sialic acid levels in GNE-deficient cell lines.
53 f glycosylation (CDG) caused by mutations in GNE that limit the production of ManNAc-6-P.
54 cle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzym
55 GNE myopathy is associated with mutations in GNE.
56  oxidative stress as a therapeutic target in GNE myopathy.
57  G2019S LCLs with the LRRK2 kinase inhibitor GNE-7915, either prevented or restored mtDNA damage to c
58                           Our lead inhibitor GNE-3511 (26) displayed concentration-dependent protecti
59 fficiently than the small-molecule inhibitor GNE-140.
60 X015 or pelabresib or the CBP/p300 inhibitor GNE-049 was synergistically lethal in MPN-sAML cells (in
61  identification of type II pan-RAF inhibitor GNE-0749 (7), which features a fluoroquinazolinone hinge
62 ion of a potent and selective ITK inhibitor (GNE-9822) with good ADME properties in preclinical speci
63 e MAP4K4-specific pharmacological inhibitor, GNE-495, impedes pancreatic cancer cell growth, migratio
64 the development of selective USP7 inhibitors GNE-6640 and GNE-6776.
65  for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase (GNE) beyond controlling flux into the sialic acid biosyn
66        UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) catalyzes the first two committed steps in sialic a
67 imerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (
68 deposition of maternal gne mRNA and maternal GNE protein at the earliest embryonic stage, emphasizing
69 levels, but the process by which NO-mediated GNE occurs is not clear.
70 eaction, a H+, may contribute to NO-mediated GNE.
71                               Advancement of GNE-7915 into rodent and higher species toxicity studies
72    To investigate other potential effects of GNE mutations, we compared sialic acid production in cel
73 s GM3 and GD3 also changed the expression of GNE and led to reduced ST3Gal5 and ST8Sia1 mRNA levels,
74 ines expressing wild type or mutant forms of GNE.
75      Sialic acid deficiency is a hallmark of GNE myopathy, a rare congenital disorder of glycosylatio
76 rs culminated in the rapid identification of GNE-0877 (11) and GNE-9605 (20) as highly potent and sel
77 The resultant loss of feedback inhibition of GNE-epimerase activity by CMP-sialic acid causes excessi
78                       Feedback inhibition of GNE-epimerase activity by CMP-sialic acid recovered afte
79       We also propose that the prevalence of GNE myopathy may be underestimated due to the frequent a
80               Conversely, down-regulation of GNE by RNA interference methods had the opposite, but co
81 missense mutations in the allosteric site of GNE, coding for the rate-limiting enzyme of sialic acid
82 alic acid supplementation on symptomatic old GNE myopathy mice that have ongoing, active muscle degen
83 al, continuous administration to 50-week-old GNE myopathy mice for 30 weeks.
84           Most of the current information on GNE myopathy has been obtained through studies of Jewish
85 in of Raf (a downstream effector of Ras), or GNE rates relative to non-nitrosylated Ras.
86 50 years) with genetically and biopsy-proved GNE-related myopathy and five healthy volunteers (three
87 y proposed a mechanism of NO/O2-mediated Ras GNE, in which *NO2, formed by the reaction of NO with O2
88 likely to be involved in the NO-mediated Ras GNE.
89 adical-based mechanism of NO/O2-mediated Ras GNE.
90 thiyl radical intermediate that promotes Ras GNE, we have also postulated that another byproduct of t
91 creased ganglioside levels (e.g. recombinant GNE and exogenous gangliosides) led to reduced prolifera
92                Overexpression of recombinant GNE in human embryonic kidney (HEK AD293) cells led to a
93     We propose one example from this series, GNE-064, as a chemical probe for the bromodomains SMARCA
94 ion to exhibiting low levels of sialylation, GNE-deficient cells produced distinct N-linked glycan st
95 scle atrophy and degeneration in symptomatic GNE myopathy mice.
96 to a third-generation cocaine hapten, termed GNE (6-(2R,3S)-3-(benzoyloxy)-8-methyl-8-azabicyclo [3.2
97             Control experiments ensured that GNE-mediated changes in sialyltransferase expression and
98            Our results provide evidence that GNE myopathy can be treated even at a progressive stage
99                      Our findings imply that GNE is subject to evolutionary mechanisms to improve cel
100               Structural studies reveal that GNE-6640 and GNE-6776 non-covalently target USP7 12 A di
101 and mass spectrometry analysis revealed that GNE deficiency is associated with unanticipated effects
102                            Additionally, the GNE-495 reduced the tumor burden and extended survival o
103     All patients harbouring mutations in the GNE gene were recruited for our study.
104 muscular disorder caused by mutations in the GNE gene, which codes for the key enzyme in the metaboli
105 fied 26 patients harbouring mutations in the GNE gene.
106 nt cohorts carrying founder mutations in the GNE gene.
107                       Genetic defects of the GNE gene which encodes a critical bifunctional enzyme fo
108  diagnosis is confirmed by sequencing of the GNE gene.
109                    Cellular responses to the GNE-mediated changes in ST3Gal5 and ST8Sia1 expression a
110                                One of these, GNE-235, and its enantiomer control GNE-234 are suggeste
111 enzyme for sialic acid biosynthesis, lead to GNE myopathy, a disease manifesting with progressive mus
112  Mutations to both GNE domains are linked to GNE myopathy.
113 ein) and TEAD activity, drives resistance to GNE-7883, a pan-TEAD inhibitor.
114 sporadic inclusion body myositis is unknown, GNE myopathy is associated with mutations in GNE.
115                              Here we utilize GNE-617, a small molecule inhibitor of NAMPT, a rate-lim
116                         To elucidate whether GNE myopathy is treatable at a progressive stage of the
117  suggest an unanticipated mechanism by which GNE activity might affect signaling through cell-surface
118                         The process by which GNE mutations lead to myopathy is not well understood.
119 memory was significantly lower compared with GNE participants.
120 re of executive function in GE compared with GNE participants.
121                                Patients with GNE myopathy, a progressive and debilitating disease cau
122 a precursor of sialic acid) in patients with GNE myopathy.
123  accurate diagnosis is made in patients with GNE myopathy.
124 SWV was significantly lower in patients with GNE-related myopathy than in control subjects (P < .02).
125  muscles were evaluated in the patients with GNE-related myopathy, and the gastrocnemius, vastus late
126 essment of disease activity in patients with GNE-related myopathy.
127 d preload were examined in the patients with GNE-related myopathy.

 
Page Top