ライフサイエンスコーパス: Lowe syndrome

1 ntral hypotonia and intellectual disability (Lowe syndrome).

2 potential new strategy for the treatment of Lowe syndrome.

3 nase inhibitors as a therapeutic strategy in Lowe syndrome.

4 l polyphosphate 5-phosphatase, is mutated in Lowe syndrome.

5 ns result in a myriad of phenotypes found in Lowe syndrome.

6 ciliary dysfunction in the manifestation of Lowe syndrome.

7 raffic leads to the neurological symptoms of Lowe syndrome.

8 ous system and ocular defects in the case of Lowe syndrome.

9 cal abnormalities that are characteristic of Lowe syndrome.

10 toskeleton in fibroblasts from patients with Lowe syndrome.

11 in this activity result in the human disease Lowe syndrome.

12 ile 85% of the values are from patients with Lowe syndrome.

13 ere are no effective targeted treatments for Lowe syndrome.

14 tdIns(4,5)P(2) on membranes and, ultimately, Lowe syndrome.

15 culocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder ch

16 PIP2 in human fibroblasts from patients with Lowe syndrome, a genetic disorder that affects phosphoin

17 Lowe syndrome, a multisystem disease characterized by re

18 rthologue of dOCRL, causes oculocerebrorenal Lowe syndrome, a rare multisystemic genetic disease.

19 Lowe syndrome, a rare X-linked multisystem disorder pres

20 al enzymes in the plasma of 15 patients with Lowe syndrome and 15 age-matched male controls.

21 om kidney proximal tubules of a patient with Lowe syndrome and a normal individual were used to study

22 Lowe syndrome and Dent disease are two conditions that r

23 and are consistent with a scenario in which Lowe syndrome and Dent disease result from perturbations

24 OCRL, whose mutations are responsible for Lowe syndrome and Dent disease, and INPP5B are two simil

25 new avenues for therapeutic interventions in Lowe syndrome and Dent disease.

26 ons in the inositol 5-phosphatase OCRL cause Lowe syndrome and Dent's disease.

27 n of the inositol 5-phosphatase OCRL1 causes Lowe syndrome and Dent-2 disease.

28 docytosis underlies the renal tubulopathy in Lowe syndrome and Dent-2 disease.

29 tudies substantiate the first mouse model of Lowe syndrome and give insights into the role of OCRL in

30 L1 leads to the phenotypic manifestations of Lowe syndrome are currently unclear, in part, owing to t

31 Lowe syndrome-associated mutations in OCRL result in sho

32 vestigate the role of OCRL in Dent disease 2/Lowe syndrome by using OcrlY/- mice, where the lethal de

33 pathway restores normal cytokinesis in human Lowe syndrome cells and rescues OCRL phenotypes in a zeb

34 The pathogenesis of Lowe syndrome due to deficiency of a phosphatidylinosito

35 or disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised.

36 The Lowe syndrome gene, OCRL1, encodes a phosphatidylinosito

37 thogenic variant in the gene associated with Lowe syndrome in one child, and an average of 1.8 report

38 ere, we demonstrate a novel gene therapy for Lowe syndrome in patient fibroblasts using an adenine ba

39 Lowe syndrome is a rare X-linked congenital disease that

40 Lowe syndrome is a rare X-linked disorder characterized

41 Lowe syndrome is an X-linked disorder that has a complex

42 ted gene therapy is a feasible treatment for Lowe syndrome, laying the foundation for therapeutic app

43 Lowe syndrome (LS) is a devastating, X-linked genetic di

44 Lowe Syndrome (LS) is a lethal genetic disorder caused b

45 The Lowe syndrome (LS) is a life-threatening, developmental

46 Lowe syndrome (LS) is an X-linked developmental disease

47 Lowe syndrome (LS) is an X-linked recessive disorder cau

48 ons of the inositol 5-phosphatase OCRL cause Lowe syndrome (LS), characterized by congenital cataract

49 s and rescues OCRL phenotypes in a zebrafish Lowe syndrome model.

50 Unlike patients with typical Lowe syndrome, none of these patients had metabolic acid

51 he gene that when mutated is responsible for Lowe syndrome, or oculocerebrorenal syndrome (OCRL), is

52 Here we show that OCRL loss in Lowe syndrome patient fibroblasts impacts clathrin-media

53 The cells from the Lowe syndrome patient lack OCRL protein.

54 nclusion, we report novel OCRL1 mutations in Lowe syndrome patients and the corresponding histopathol

55 ntified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma.

56 logical defects similar to those reported in Lowe syndrome patients, namely increased susceptibility

57 ) 5-phosphatase deficiency might produce the Lowe syndrome phenotype.

58 kDa (Ipip27A), an interacting partner of the Lowe syndrome protein oculocerebrorenal syndrome of Lowe

59 mechanistic understanding of Dent disease 2/Lowe syndrome remains scarce due to limitations of anima

60 Lowe syndrome results from mutations in the OCRL1 gene,

61 s more-extensive phenotypic heterogeneity in Lowe syndrome than was previously appreciated.

62 ysosomal enzyme trafficking in patients with Lowe syndrome that leads to increased extracellular lyso

63 Here, we describe a zebrafish model for Lowe syndrome using stable and transient suppression of

64 lyphosphate 5-phosphatase that is mutated in Lowe syndrome, was investigated by fluorescence microsco

65 Lowe syndrome, which is characterized by defects in the

66 sitol 5-phosphatase OCRL are responsible for Lowe syndrome, whose manifestations include mental retar