New proteins from old diseases provide novel insights in cell biology

Current Opinion in Neurology

Volumn 14, Issue 6, 2001, Pages 805-810

  Walkley, Steven U ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOLOGY; HUMAN; LYSOSOME STORAGE DISEASE; MUCOLIPIDOSIS; NEURONAL CEROID LIPOFUSCINOSIS; NIEMANN PICK DISEASE; PROTEIN ANALYSIS; PROTEIN DEFECT; PROTEIN LOCALIZATION; REVIEW;

ADULT; BRAIN DISEASES, METABOLIC, INBORN; CHILD; ENDOSOMES; HUMANS; INFANT; LYSOSOMAL STORAGE DISEASES; LYSOSOMES;

EID: 0035684015     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200112000-00020     Document Type: Review

References (51)

1. α-glucosidase deficiency in generalised glycogen storage disease (Pompe's disease)
2. Over idiopatische hypertrophie van het hart
3. Tissue fractionation studies: Intracellular distribution patterns of enzymes in rat-liver tisssue
4. Intracellular distribution and properties of α-glucosidases in rat liver
5. Multiple sulfatase deficiency and the nature of the sulfatase family
6. I-cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization
7. Galactosialidosis
8. Sphingolipid activator proteins
9. Niemann-Pick disease type C: A lipid trafficking disorder
10. Niemann-Pick disease types A and B: Sphingomyelinase deficiencies
11. The NP-C gene: A key to pathways of intracellular transport
12. Neurons in Niemann-Pick disease type C accumulate gangliosides and cholesterol and undergo dendritic and axonal alterations
13. Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
14. Transmembrane molecular pump activity of Niemann-Pick C1 protein
15. Disorders of free sialic acid storage
16. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
17. Lysosomal transport disorders
18. Cystinosis: A disorder of lysosomal membrane transport
19. The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
20. Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse
21. Identification of HE1 as the second gene of Neimann-Pick C disease
22. A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol
23. The GM2 activator protein, its role as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein
24. Ganglioside GM2-activator protein and vesicular transport in collecting duct intercalated cells
25. Functional rafts in cell membranes
26. Studies in Tay-Sachs disease V. The membrane of the membranous cytoplasmic body
27. Jamming the endosomal system: Lipid rafts and lysosomal storage diseases
28. Depletion of rafts in late endosomal membranes is controlled by NPC1-dependent recycling of cholesterol to the plasma membrane
29. The neuronal ceroid lipofuscinoses
30. Ceroid lipofuscinosis in sheep. II. The major component of the lipopigment in liver, kidney, pancreas, and brain is low molecular weight protein
31. Genetics of the neuronal ceroid lipofuscinoses
32. Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase
33. Localization and processing of CLN3, the protein associated to Batten disease: Where it is and what does it do?
34. Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons
35. Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: Implications for infantile neuronal ceroid lipofuscinosis (INCL)
36. Batten disease: Evaluation of CLN3 mutations on protein localization and function
37. The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
38. Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal: Ceroid-lipofuscinosis (Batten disease)
39. Anomalies of mitochondrial ATP synthase regulation in four different types of neuronal ceroid lipofuscinosis
40. Batten disease: A typical neuronal storage disease or a genetic neurodegenerative disorder characterized by excitotoxicity?
41. Opposing actions of cGMP and calcium on the conductance of the F(0) subunit c pore
42. Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
43. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
44. Abnormal transport along the lysosomal pathway in: Mucolipidosis type IV disease
45. The TRP ion channel family
46. Compromised cytoarchitecture and polarized trafficking in autosomal dominant polycystic kidney disease cells
47. Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog
48. Lysosomal glycogen storage diseases with normal acid maltase
49. Glycogen storage disease type II: Acid α-glucosidase (acid maltase) deficiency
50. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
51. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice