ライフサイエンスコーパス: mucolipidosis

1 ds to microalbuminuria in some patients with mucolipidosis.

2 generates fragmented, effete mitochondria in mucolipidosis.

3 Mutations of human TRPML1 cause type IV mucolipidosis, a devastating pediatric neurodegenerative

4 on mutations are the direct cause of type IV mucolipidosis, an autosomal recessive lysosomal storage

5 Sialidosis (mucolipidosis I) is a glycoprotein storage disease, clin

6 Mucolipidosis II (ML-II) is a pediatric disorder caused

7 Mucolipidosis II (MLII) is a lysosomal storage disorder

8 Mucolipidosis II (MLII) is a lysosomal storage disorder

9 ads to the severe lysosomal storage disorder mucolipidosis II (MLII).

10 Mucolipidosis II (MLII; I-cell disease) and mucolipidosi

11 Mucolipidosis II and III (ML II; ML III) are lysosomal s

12 ing missense mutations in GNPTAB reported in mucolipidosis II and III alphabeta patients using cell-

13 s gene cause the lysosomal storage disorders mucolipidosis II and III alphabeta.

14 complex cause the lysosomal storage diseases mucolipidosis II and III.

15 Failure to modify LIF in the context of mucolipidosis II and its subsequent accumulation in the

16 ain (Lys732Asn) identified in a patient with mucolipidosis II exhibited full activity toward the simp

17 of the K732N mutant in a zebrafish model of mucolipidosis II failed to correct the phenotypic abnorm

18 Fibroblasts from patients with mucolipidosis II, a disorder associated with mutations i

19 ylation of acid hydrolases in a patient with mucolipidosis II.

20 in several exocrine glands of patients with mucolipidosis II.

21 Tase) lead to the lysosomal storage disorder mucolipidosis II.

22 f active phosphotransferase is the basis for mucolipidosis III alphabeta in a subset of patients show

23 The lysosomal storage disorder mucolipidosis III alphabeta is caused by mutations in th

24 studies of missense mutations identified in mucolipidosis III patients that alter amino acids in the

25 Mucolipidosis II (MLII; I-cell disease) and mucolipidosis IIIA (MLIIIA; classical pseudo-Hurler poly

26 l Ca(2+) channel whose human mutations cause mucolipidosis IV (ML4), a neurodegenerative disease with

27 Mucolipidosis IV (MLIV) is a severe lysosomal storage di

28 Mucolipidosis IV (MLIV) is an autosomal recessive disord

29 Mucolipidosis IV (MLIV) is an orphan disease leading to

30 he human lysosomal storage disorder known as mucolipidosis IV (MLIV).

31 ts cause the rare lysosomal storage disorder mucolipidosis IV (MLIV).

32 ipin 1 (MCOLN1) gene responsible for causing Mucolipidosis IV Disease.

33 Mucolipidosis IV is a debilitating developmental lysosom

34 Mucolipidosis IV is caused by loss-of-function mutations

35 cation channel defect in the pathogenesis of mucolipidosis IV is discussed.

36 with three lysosomal storage diseases: NPC, mucolipidosis IV, and Sandhoff disease.

37 n be used for ocular therapy development for mucolipidosis IV.

38 Mucolipidosis (ML) II and III are rare lysosomal storage

39 (ML1), a protein that is mutated in type IV mucolipidosis (ML-IV), is a tubulovesicular channel esse

40 on mutations are the direct cause of type IV mucolipidosis (MLIV), an autosomal recessive lysosomal s

41 rations are common symptoms in patients with mucolipidosis type II (MLII), a rare lysosomal storage d

42 ase give rise to lysosomal storage diseases (mucolipidosis type II and III), whereas no pathological

43 ulting in lysosomal storage diseases, namely mucolipidosis type II and mucolipidosis type III alpha/b

44 mutation corresponding to that seen in human mucolipidosis type II and mucolipidosis type III alpha/b

45 ysosomal enzyme GlcNAc-1-phosphotransferase (mucolipidosis type II or Gnptab -/- mice), the enzyme th

46 d other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM

47 tured human HFs as a human ex vivo model for mucolipidosis type II.

48 of the tissue-specific abnormalities seen in mucolipidosis type II.

49 ma and skeletal dysplasia, which phenocopies Mucolipidosis Type II.

50 that seen in human mucolipidosis type II and mucolipidosis type III alpha/beta showed significantly r

51 e diseases, namely mucolipidosis type II and mucolipidosis type III alpha/beta, which is associated w

52 Mucolipidosis type III gamma is typically diagnosed duri

53 The diagnosis of mucolipidosis type III gamma was confirmed biochemically

54 trophy is part of the phenotypic spectrum of mucolipidosis type III gamma.

55 tosomal recessive lysosomal storage disorder mucolipidosis type III gamma.

56 ed this mutant phenotype with the C. elegans mucolipidosis type IV (ML-IV) homolog, the recently iden

57 number of LSDs including NPC1, mild cases of mucolipidosis type IV (ML4) (TRPML1-F408), Niemann-Pick

58 Mucolipidosis type IV (MLIV) is a developmental neurodeg

59 Mucolipidosis type IV (MLIV) is a lysosomal storage dise

60 Mucolipidosis type IV (MLIV) is a lysosomal storage dise

61 Mucolipidosis type IV (MLIV) is a lysosomal storage diso

62 Mucolipidosis type IV (MLIV) is an autosomal recessive l

63 Mucolipidosis type IV (MLIV) is an autosomal recessive l

64 Mucolipidosis type IV (MLIV) is an autosomal recessive l

65 Mucolipidosis type IV (MLIV) is an autosomal recessive n

66 The lysosomal storage disorder mucolipidosis type IV (MLIV) is caused by mutations in t

67 Mucolipidosis type IV (MLIV) is caused by mutations in t

68 in Mucolipin 1 (MCOLN1) have been linked to mucolipidosis type IV (MLIV), a lysosomal storage diseas

69 el results in the neurodegenerative disorder mucolipidosis type IV (MLIV), a lysosomal storage diseas

70 Loss of the human mucolipin-1 gene underlies mucolipidosis type IV (MLIV), a lysosomal storage diseas

71 tor potential cation channel (TRPML-1) cause mucolipidosis type IV (MLIV), a rare lysosomal storage d

72 in mucolipin-1 (MCOLN1) have been linked to mucolipidosis type IV (MLIV), a recessive lysosomal stor

73 Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, a

74 ve been implicated in human diseases such as mucolipidosis type IV (MLIV), autosomal dominant polycys

75 s cause the lysosomal storage disorder (LSD) mucolipidosis type IV (MLIV), contributes to upregulate

76 While mutations in TRPML1 cause mucolipidosis type IV (MLIV), the functional consequence

77 on results in the lysosomal storage disorder mucolipidosis type IV (MLIV), we examined MLIV patient f

78 TRPML1 has been associated with mucolipidosis type IV (MLIV), while no disease phenotype

79 irectly cause the lysosomal storage disorder mucolipidosis type IV (MLIV).

80 pin 1) cause the lysosomal storage disorder, mucolipidosis type IV (MLIV).

81 l TRP-ML1 lead to the lipid storage disorder mucolipidosis type IV (MLIV).

82 Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosom

83 Here we report that mucolipidosis type IV and several unrelated lysosomal st

84 We conclude that patients with mucolipidosis type IV are constitutively achlorhydric an

85 Mutations in the human TRPML1 gene cause mucolipidosis type IV disease (ML4).

86 Mucolipidosis type IV is a genetic lysosomal storage dis

87 Mucolipidosis type IV is an autosomal recessive lysosoma

88 Mucolipidosis type IV is an autosomal recessive lysosoma

89 An unusual feature of mucolipidosis type IV is constitutive achlorhydria.

90 al dysfunction and degenerative processes in mucolipidosis type IV is unclear.

91 rovides insights into the molecular basis of mucolipidosis type IV pathogenesis.

92 at supplementing the metabolic deficiency of Mucolipidosis Type IV patients mat not be sufficient to

93 Mucolipidosis type IV results from mutations in the gene

94 Mutations in ML1 result in mucolipidosis type IV, a lysosomal storage disease chara

95 osomal Ca(2+)-permeable TRP channel, lead to mucolipidosis type IV, a neurodegenerative lysosomal sto

96 human TRPML1 (mucolipin 1/MCOLN1) result in mucolipidosis type IV, a severe inherited neurodegenerat

97 Mutations in TRPML1 lead to mucolipidosis type IV, a severe lysosomal storage disord

98 neurodegenerative lysosomal storage disorder mucolipidosis type IV, and a gain-of-function mutation (

99 osome storage disorders-Niemann-Pick type C, mucolipidosis type IV, and Sandhoff's disease, all of wh

100 ndhoff forms), metachromatic leucodystrophy, mucolipidosis type IV, Niemann-Pick disease (types A, B,

101 n-1, result in the lysosomal storage disease Mucolipidosis Type IV.

102 n 1, result in the lysosomal storage disease mucolipidosis Type IV.

103 nn-Pick disease type C1, Batten disease, and mucolipidosis type IV.

104 ity factor (GCAF) and its related disease as Mucolipidosis Type V.

105 Mucolipidosis, type IV (ML-IV) is an autosomal recessive

106 GNPTG, cause the lysosomal storage diseases mucolipidosis types II and III.

107 nt initially described as atypical SLOS with mucolipidosis was shown to have lathosterolosis by bioch