ライフサイエンスコーパス: mucolipidosis type IV

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

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

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

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

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

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

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

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

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

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

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

12 Mucolipidosis type IV is a genetic lysosomal storage dis

13 Mucolipidosis type IV is an autosomal recessive lysosoma

14 Mucolipidosis type IV is an autosomal recessive lysosoma

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

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

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

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

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

20 Mucolipidosis type IV (MLIV) is a developmental neurodeg

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

43 Mucolipidosis type IV results from mutations in the gene

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