leucine and Lysosomal Enzyme Disorders

leucine has been researched along with Lysosomal Enzyme Disorders in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (25.00)29.6817
2010's3 (75.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Amraoui, Y; Bremova-Ertl, T; Cortina-Borja, M; Fineran, P; I Dali, C; Imrie, J; Jones, SA; Kirkegaard, T; Lachmann, R; Mengel, E; Platt, FM; Runz, H; Strupp, M; Te Vruchte, D1
Braulke, T; Gelis, S; Herder, S; Steenhuis, P; Storch, S1
Ackerley, CA; Chabrol, B; Fardeau, M; Guo, R; Israelian, N; Kalimo, H; Kissel, JT; Levy, N; Mahuran, DJ; Manolson, MF; Minassian, BA; Minetti, C; Munteanu, I; Naranian, T; Nishino, I; Paroutis, P; Pellissier, JF; Ramachandran, N; Ren, ZP; Rilstone, JJ; Ruggieri, A; Tailor, CS; Udd, B; Wang, P1
Ashmarina, L; Bifsha, P; Chemtob, S; Durand, S; Gravel, RA; Landry, K; Pshezhetsky, AV; Quiniou, C; Seyrantepe, V; Sladek, R; Trudel, S; Xu, Y1

Other Studies

4 other study(ies) available for leucine and Lysosomal Enzyme Disorders

ArticleYear
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
    Orphanet journal of rare diseases, 2018, 08-16, Volume: 13, Issue:1

    Topics: Adult; Clinical Trials as Topic; Cohort Studies; Female; Humans; Leucine; Lysosomal Storage Diseases; Male; Niemann-Pick Disease, Type C; Surveys and Questionnaires; Young Adult

2018
Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif.
    Traffic (Copenhagen, Denmark), 2010, Jul-01, Volume: 11, Issue:7

    Topics: Amino Acid Motifs; Animals; Biological Transport; Biotinylation; Cell Line; Cell Membrane; Chlorocebus aethiops; Clathrin; COS Cells; Cytosol; Endocytosis; HeLa Cells; Humans; Leucine; Lysosomal Membrane Proteins; Lysosomal Storage Diseases; Lysosomes; Membrane Glycoproteins; Membrane Transport Proteins; Protein Structure, Tertiary; Protein Transport; Recombinant Proteins

2010
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
    Acta neuropathologica, 2013, Volume: 125, Issue:3

    Topics: Adenosine Triphosphatases; Animals; Autophagy; Cells, Cultured; Humans; Hydrogen-Ion Concentration; Leucine; Lysosomal Storage Diseases; Lysosomes; Male; Mice; Muscle, Skeletal; Muscular Diseases; Mutation; RNA Interference; RNA, Messenger; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Subcellular Fractions; Time Factors; Vacuolar Proton-Translocating ATPases; Vacuoles

2013
Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway.
    Cell death and differentiation, 2007, Volume: 14, Issue:3

    Topics: Animals; Apoptosis; Cysteine Proteinase Inhibitors; Fibroblasts; Gene Expression Regulation, Enzymologic; Humans; Leucine; Lysosomal Storage Diseases; Mice; Oligonucleotide Array Sequence Analysis; Proteasome Endopeptidase Complex; RNA; RNA, Small Interfering; Signal Transduction; Skin; Ubiquitin; Ubiquitin Thiolesterase

2007