Results 111 to 120 of about 14,130 (212)

Quality Control Gone Wrong: Mitochondria, Lysosomal Storage Disorders and Neurodegeneration. [PDF]

, 2013
The eukaryotic cell possesses specialized pathways to turnover and degrade redundant proteins and organelles. Each pathway is unique and responsible for degradation of distinctive cytosolic material.
Duchen, MR, Osellame, LD
core   +1 more source

Maternal and Fetal Outcomes in Imiglucerase‐Treated Patients With Gaucher Disease: Real‐World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub‐Registry

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
This graphical abstract highlight the real‐world maternal and fetal outcomes in imiglucerase‐treated patients with Gaucher disease from the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub‐Registry. ABSTRACT Untreated women with Gaucher disease (GD) are at an increased risk of GD‐related complications during pregnancy ...
Shoshana Revel‐Vilk, Patrick Deegan, Debra Day‐Salvatore, Ozlem Goker‐Alpan, Eugen Mengel, Julie L. Batista, Jenny L. Carwile, Gabriela Perichon, Can Ficicioglu   +8 more
wiley   +1 more source

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers

Stem Cell Reports, 2017
Numerically the most important risk factor for the development of Parkinson's disease (PD) is the presence of mutations in the glucocerebrosidase GBA1 gene.
Shi-Yu Yang, Michelle Beavan, Kai-Yin Chau, Jan-Willem Taanman, Anthony H.V. Schapira   +4 more
doaj   +1 more source

A Specific Activity-Based Probe to Monitor Family GH59 Galactosylceramidase, the Enzyme Deficient in Krabbe Disease [PDF]

, 2017
Galactosylceramidase (GALC) is the lysosomal β-galactosidase responsible for the hydrolysis of galactosylceramide. Inherited deficiency in GALC causes Krabbe disease, a devastating neurological disorder characterized by accumulation of galactosylceramide
Aerts, Johannes M F G, Biela-Banas, Anna, Boot, Rolf G., Cachón‐González, M. Begoña, Cox, Timothy M., Florea, Bogdan I., Herrera Moro, Daniela, Kallemeijn, Wouter W., Kim, Nee Na, Marques, André R. A., Martin, Olivier R., Nelson, Jessica K., Ottenhoff, Roelof, Overkleeft, Herman S., Scheij, Saskia, van Roomen, Cindy P.A.A., Verhoek, Marri, Willems, Lianne I.   +17 more
core   +1 more source

Trans‐Omics Integration Reveals That the Kidney Contributes to Systemic Aging via Sexually Dimorphic Accumulation of Glycosphingolipids

MedComm, Volume 7, Issue 3, March 2026.
Female‐specific renal GluCer accumulation disrupts mitochondrial quality control via a conserved purine‐mTORC1 pathway, triggering a wave of uremic toxins into the systemic circulation that constitutes a female‐biased vulnerability toward renal‐driven multiorgan senescence.
Zhen Ni, Chenyin Cao, Yanlin Tian, Jinming Mu, He Tian, Zehua Wang, Shaohua Zhang, Mingjun Cao, Yuntian Yang, Wei Ling Florence Lim, Jingkang Cui, Huan Sun, Huan Miao, Yuan Wang, Jie Du, Timothy Kwok, Huan Chen, Sin Man Lam, Guanghou Shui   +18 more
wiley   +1 more source

The cognitive profile of type 1 Gaucher disease patients [PDF]

, 2018
This is the final version of the article. Available from the publisher via the DOI in this record.BACKGROUND: The absence of neurological symptoms and signs is traditionally considered mandatory for a diagnosis of type 1 Gaucher disease (GD1), but in ...
Biegstraaten, M, Giraldo, P, Hollak, CEM, Hughes, D, Luzy, C, Maródi, L, Mehta, A, Mengel, K-E, Mrsic, M, Niederau, C, Petakov, M, van Schaik, IN, Wesnes, KA   +12 more
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Investigating rare haematological disorders - A celebration of 10 years of the Sherlock Holmes symposia [PDF]

, 2016
The Sherlock Holmes symposia have been educating haematologists on the need for prompt recognition, diagnosis and treatment of rare haematological diseases for 10 years. These symposia, which are supported by an unrestricted educational grant from Sanofi
Bauduer, F, Bjerrum, OW, Cappellini, MD, Cassiman, D, Fraga, C, Hughes, D, Huijgens, P, Jäger, U, Machaczka, M, Marinakis, T, Massenkeil, G, Mehta, A, Rosenbaum, H, Vallejo, C, Van Droogenbroeck, J, Villarrubia, J, Wondergem, M   +16 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

The LRRK2-macroautophagy axis and its relevance to Parkinson's Disease [PDF]

, 2017
A wide variety of different functions and an impressive array of interactors have been associated with leucine-rich repeat kinase 2 (LRRK2) over the years. Here, I discuss the hypothesis that LRRK2 may be capable of interacting with different proteins at
Agalliu, Alegre-Abarrategui, Alvarez-Erviti, Bang, Beilina, Bento, Bravo-San Pedro, Burchell, Burré, Claudia Manzoni, Corti, Cuervo, Dinter, Drouet, Du, Ebrahimi-Fakhari, Friedman, Gan-Or, George, Gómez-Suaga, Haack, Han, Henry, Hernandez, Kirkegaard, Lewis, Liu, Magalhaes, Manzoni, Manzoni, Manzoni, Manzoni, Matsui, Moehle, Nalls, Orenstein, Paisán-Ruíz, Park, Perrotta, Plowey, Polymeropoulos, Ramonet, Saez-Atienzar, Saez-Atienzar, Schapansky, Schapira, Singleton, Soukup, Su, Sánchez-Danés, Tang, Tong, Wallings, Wang, Zavodszky, Zimprich   +55 more
core   +1 more source

Recombinant biologic products versus nutraceuticals from plants - a regulatory choice? [PDF]

, 2016
Biotechnology has transformed the potential for plants to be a manufacturing source of pharmaceutical compounds. Now, with transgenic and transient expression techniques, virtually any biologic, including vaccines and therapeutics, could be manufactured ...
Fischer, Giudice, Gurib-Fakim, Haq, Hefferon, Jack, Kapusta, Ma, Ma, Paul, Raskin, Shaaltiel, Sparrow, Sparrow, Spok, Streatfield, Tacket, Tacket, Tacket, Thanavala, Yusibov   +20 more
core   +1 more source