Results 101 to 110 of about 2,570 (187)

STRUCTURAL-ANALYSIS OF SAPOSIN-C AND SAPOSIN-B - COMPLETE LOCALIZATION OF DISULFIDE BRIDGES

, 1995
Saposins A, B, C, and D are a group of homologous glycoproteins derived from a single precursor, prosaposin, and apparently involved in the stimulation of the enzymatic degradation of sphingolipids in lysosomes. All saposins have six cysteine residues at
A. Amoresano, R. Ciaffoni, F. Zappacosta, R. Salvioli, R. Siciliano, P. Pucci, A. M. Vaccaro, A. Barca, M. Tatti, MARAS, Bruno   +9 more
core   +1 more source

Saposin C induces pH-dependent destabilization and fusion of phosphatidylserine-containing vesicles

, 1994
We have previously shown that saposin C (Sap C), a glucosylceramidase activator protein, interacts with phosphatidylserine (PS) large unilamellar vesicles (LUV), promoting the glucosylceramidase binding to the bilayer [(1993) FEBS Lett. 336, 159–162]. In
Annalucia Serafino, Massimo Tatti, Fiorella Ciaffoni, Tatti, Massimo, Rosa Salvioli, Salvioli, Rosa, Anna Maria Vaccaro, Vaccaro, Anna Maria, Serafino, Annalucia, Ciaffoni, Fiorella, Barca, Alessandra, Alessandra Barca   +11 more
core   +1 more source

Identification of potent and selective glucosylceramide synthase inhibitors from a library of N-alkylated iminosugars

, 2011
Glucosylceramide synthase (GCS) is an important target for clinical drug development for the treatment of lysosomal storage disorders and a promising target for combating type 2 diabetes. Iminosugars are useful leads for the development of GCS inhibitors;
Rogaar, Eva, de Bruijn, Arjan C. J., Godschalk, Frithjof D., Hagens, Peter, Wijzenbroek, Mark, Luitjens, Stijn B., Strijland, Anneke, van den Berg, Richard J. B. H. N., Guijt, Marieke C., van der Marel, Gijs, van Rixel, Vincent H. S., Aerts, Johannes M. F. G., van't Hart, Steven M., Boot, Rolf, Overkleeft, Herman S., Bikker, Pieter, Zweegers, Thor, Donker-Koopman, Wilma E., Halma, Jerre M., Ghisaidoobe, Amar   +19 more
core   +1 more source

Iminosugars as glucosylceramide processing enzymes inhibitors: design, synthesis and evaluation

, 2017
This Thesis describes the design, synthesis and evaluation as glycoprocessing enzyme inhibitors of focused libraries of iminosugars. In the studies described, 1-deoxynojirimycin (DNJ), and its known N-alkylated derivatives, served as starting points. DNJ
Liu, B.
core  

Identification of Potent and Selective Glucosylceramide Synthase Inhibitors from a Library of N-Alkylated Iminosugars

, 2016
Glucosylceramide synthase (GCS) is an important target for clinical drug development for the treatment of lysosomal storage disorders and a promising target for combating type 2 diabetes. Iminosugars are useful leads for the development of GCS inhibitors;
Vincent H. S. van Rixel (2232241), Wilma E. Donker-Koopman (1720321), Mark Wijzenbroek (1458412), Amar Ghisaidoobe (2183170), Marieke C. Guijt (2232238), Herman S. Overkleeft (128584), Arjan C. J. de Bruijn (2232253), Richard J. B. H. N. van den Berg (2183168), Johannes M. F. G. Aerts (128594), Peter Hagens (2232235), Frithjof D. Godschalk (2232256), Anneke Strijland (1720312), Rolf Boot (2232259), Gijs van der Marel (2232244), Eva Rogaar (2232232), Pieter Bikker (2232247), Jerre M. Halma (2232250), Stijn B. Luitjens (2232268), Thor Zweegers (2232262), Steven M. van't Hart (2232265)   +19 more
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Generation of a human cell line with stable production of lysosomal recombinant β-glucosylceramidase enzyme by lentiviral system

A doença de Gaucher (DG) é uma doença de acúmulo lisossomal, com padrão de herança autossômico recessivo, devido a mutação no gene que codifica a enzima β-glicosilceramidase ácida (GBA), que hidrolisa o esfingolipídeo glicosilceramida. Atualmente, o
Cardoso, Jéssica Luana Souza
core   +1 more source

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience

Children
Objective: The classification of hereditary spastic paraplegia (HSP) is based on genetics, and the number of genetic loci continues to increase with new genetic descriptions.
Seyda Besen, Yasemin Özkale, Murat Özkale, Sevcan Tuğ Bozdoğan, Özlem Alkan, Serdar Ceylaner, İlknur Erol   +6 more
doaj   +1 more source

Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report)

, 2008
Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and results from a genetic deficiency of the enzyme glucocerebrosidase (glucosylceramidase).
Davarian, A., Mirbehbahani, N.B.
core   +1 more source

Clinical characteristics and pathophysiological properties of newly discovered LRRK2 variants associated with Parkinson's disease

Neurobiology of Disease
Leucine-rich repeat kinase 2 (LRRK2) is the most common gene responsible for familial Parkinson's disease (PD). The gene product of LRRK2 contains multiple protein domains, including armadillo repeat, ankyrin repeat, leucine-rich repeat (LRR), Ras-of ...
Toshiki Tezuka, Mayu Ishiguro, Daisuke Taniguchi, Ehoto Osogaguchi, Kahori Shiba-Fukushima, Jun Ogata, Ryota Ishii, Aya Ikeda, Yuanzhe Li, Hiroyo Yoshino, Taro Matsui, Kenichi Kaida, Manabu Funayama, Kenya Nishioka, Fumihisa Kumazawa, Tomoyasu Matsubara, Hitoshi Tsuda, Yuko Saito, Shigeo Murayama, Yuzuru Imai, Nobutaka Hattori   +20 more
doaj   +1 more source

PINK1 is a target of T cell responses in Parkinson’s disease

The Journal of Clinical Investigation
Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder. While there is no curative treatment, the immune system’s involvement with autoimmune T cells that recognize the protein α-synuclein (α-syn) in a subset of individuals ...
Gregory P. Williams, Antoine Freuchet, Tanner Michaelis, April Frazier, Ngan K. Tran, João Rodrigues Lima-Junior, Elizabeth J. Phillips, Simon A. Mallal, Irene Litvan, Jennifer G. Goldman, Roy N. Alcalay, John Sidney, David Sulzer, Alessandro Sette, Cecilia S. Lindestam Arlehamn   +14 more
doaj   +1 more source