ライフサイエンスコーパス: mucolipidosis

1 generates fragmented, effete mitochondria in mucolipidosis.

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

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

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

5 Mucolipidosis II (MLII) is a lysosomal storage disorder

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

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

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

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

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

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

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

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

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

15 in several exocrine glands of patients with mucolipidosis II.

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

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

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

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

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

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

22 Mucolipidosis IV (MLIV) is an autosomal recessive disord

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

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

25 Mucolipidosis IV is a debilitating developmental lysosom

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

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

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

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

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

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

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

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

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

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

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

37 Mucolipidosis type IV (MLIV) is a developmental neurodeg

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

60 Mucolipidosis type IV is a genetic lysosomal storage dis

61 Mucolipidosis type IV is an autosomal recessive lysosoma

62 Mucolipidosis type IV is an autosomal recessive lysosoma

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

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

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

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

67 Mucolipidosis type IV results from mutations in the gene

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

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

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

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

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

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

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

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

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

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

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