Results 131 to 140 of about 9,391,147 (295)

Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease

Journal of Biological Chemistry, 2017
The lysosomal acid β-glucosidase GBA1 and the non-lysosomal β-glucosidase GBA2 degrade glucosylceramide (GlcCer) to glucose and ceramide in different cellular compartments.
Sophie Schonauer, H. Körschen, Anke Penno, Andreas Rennhack, Bernadette Breiden, K. Sandhoff, K. Gutbrod, P. Dörmann, Diana N Raju, P. Haberkant, M. Gerl, B. Brügger, H. Zigdon, Ayelet Vardi, A. Futerman, C. Thiele, D. Wachten   +16 more
semanticscholar   +1 more source

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models [PDF]

, 2016
GBA gene mutations are the greatest cause of Parkinson disease (PD). GBA encodes the lysosomal enzyme glucocerebrosidase (GCase) but the mechanisms by which loss of GCase contributes to PD remain unclear.
Beavan, M, Chau, K-Y, Gegg, ME, Sanchez-Martinez, A, Schapira, AHV, Whitworth, AJ   +5 more
core   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

Analysis of the Situation of Unmet Health Care Need Among Extremely Rare Disease of Gaucher [PDF]

, 2020
Xinye Qi, Jiao Xu, Linghan Shan, Ye Li, Yu Cui, Huan Liu, Kexin Wang, Lijun Gao, Zheng Kang, Qunhong Wu   +9 more
openalex   +1 more source

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case [PDF]

, 2022
Carmela Zizzo, Irene Ruggeri, Paolo Colomba, Christiano Argano, Daniele Francofonte, Marcomaria Zora, Emanuela Maria Marsana, Giovanni Duro, Salvatore Corrao   +8 more
openalex   +1 more source

Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report

Journal of Medical Case Reports, 2017
BackgroundThe variants of neuronopathic Gaucher disease may be viewed as a clinical phenotypic continuum divided into acute and chronic forms. The chronic neuronopathic form of Gaucher disease is characterized by a later onset of neurological symptoms ...
Ferdinando Ceravolo, M. Grisolia, S. Sestito, F. Falvo, M. Moricca, D. Concolino   +5 more
semanticscholar   +1 more source

TFEB regulates lysosomal proteostasis [PDF]

, 2013
Loss-of-function diseases are often caused by destabilizing mutations that lead to protein misfolding and degradation. Modulating the innate protein homeostasis (proteostasis) capacity may lead to rescue of native folding of the mutated variants, thereby
Abrahamov, Alberto di Ronza, Altarescu, Ashley Ake, Balch, Balch, Beutler, Brown, Cho, Christophe, Desnick, Dionisi-Vici, Fan Wang, Ferrao-Gonzales, Fu, Futerman, Gennarino, Gieselmann, Ginzburg, Grabowski, Grabowski, Grace, Hruska, Huang, Karageorgos, Kim, Kiselyov, Koprivica, Krivit, Krivit, Krivit, Laura Segatori, Lieberman, Lopes, Lu, Lu, Lubke, Ma, Maley, Marco Sardiello, Marzia Savini, Medina, Meikle, Michelakakis, Mu, Mu, Neufeld, Nigg, Ong, Palmieri, Parr, Powers, Reczek, Rohrbach, Ron, Roversi, Sands, Sardiello, Sardiello, Sawkar, Sawkar, Schmitz, Schueler, Seregin, Settembre, Shapiro, Steingrimsson, Subramanian, Tropak, Tsuji, Tsuji, Tsunemi, Vandesompele, Wang, Wang, Wang, Wei, Welch, Wensi Song, Yu, Zhao   +80 more
core   +1 more source

Intensive Sleep Retraining and Total Sleep Deprivation for Treating Chronic Insomnia: A Randomised Controlled Trial

Journal of Sleep Research, Volume 35, Issue 1, February 2026.
ABSTRACT The aim of the study was to compare the efficacy of intensive sleep retraining (ISR) and total sleep deprivation (TSD) against a no‐treatment control condition for treating chronic insomnia and examine two potential mechanisms: the resolution of conditioned insomnia and the increase in homeostatic sleep drive produced by sleep deprivation ...
J. Le Bouthillier, H. Ivers, C. M. Morin
wiley   +1 more source

Quantification of glucosylceramide in plasma of Gaucher disease patients

Brazilian Journal of Pharmaceutical Sciences, 2010
Gaucher disease is a sphingolipidosis that leads to an accumulation of glucosylceramide. The objective of this study was to develop a methodology, based on the extraction, purification and quantification of glucosylceramide from blood plasma, for use in ...
Maria Viviane Gomes Muller, André Petry, Luciene Pinheiro Vianna, Ana Carolina Breier, Kristiane Michelin-Tirelli, Ricardo Flores Pires, Vera Maria Treis Trindade, Janice Carneiro Coelho   +7 more
doaj   +1 more source

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

Annals of Clinical and Translational Neurology, 2016
Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme‐replacement and substrate‐reduction therapies are available, their efficacies in treating the neurological manifestations of GD are ...
A. Narita, K. Shirai, Shinji Itamura, A. Matsuda, A. Ishihara, Kumi Matsushita, C. Fukuda, Norika Kubota, R. Takayama, H. Shigematsu, Anri Hayashi, T. Kumada, K. Yuge, Yoriko Watanabe, Saori Kosugi, H. Nishida, Yukiko Kimura, Yusuke Endo, K. Higaki, E. Nanba, Y. Nishimura, A. Tamasaki, Masami Togawa, Yoshiaki Saito, Y. Maegaki, K. Ohno, Yoshiyuki Suzuki   +26 more
semanticscholar   +1 more source