Results 131 to 140 of about 36,633 (265)

Vesicular and non-vesicular transport feed distinct glycosylation pathways in the Golgi. [PDF]

, 2013
Newly synthesized proteins and lipids are transported across the Golgi complex via different mechanisms whose respective roles are not completely clear. We previously identified a non-vesicular intra-Golgi transport pathway for glucosylceramide (GlcCer)--
Burke JE, Capuani F, Chuang CC, D'Angelo G, D'Auria S, Daniele T, DE MATTEIS, Maria Antonietta, Di Tullio G, Harada A, Johannes L, Mattjus P, MONTI, MARIA, Ohvo Rekilä H, Platt FM, Polishchuk E, PUCCI, PIETRO, Santoro M, Sato T, Uemura T, Varriale A, Williams RL   +20 more
core   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Transcriptional Response to Acute Thermal Exposure in Juvenile Chinook Salmon Determined by RNAseq. [PDF]

, 2015
Thermal exposure is a serious and growing challenge facing fish species worldwide. Chinook salmon (Oncorhynchus tshawytscha) living in the southern portion of their native range are particularly likely to encounter warmer water due to a confluence of ...
Baerwald, Melinda R, Fangue, Nann A, May, Bernie P, Meek, Mariah H, Rincón, Gonzalo, Stephens, Molly R, Tomalty, Katharine MH   +6 more
core  

A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Anderson–Fabry disease (AFD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as
L. Lenzini, G. Pintus, G. Gugelmo, A. P. Burlina, G. P. Fadini, A. B. Burlina, N. Vitturi   +6 more
wiley   +1 more source

Structure and biological functions of fungal cerebrosides

Anais da Academia Brasileira de Ciências, 2004
Ceramide monohexosides (CMHs, cerebrosides) are glycosphingolipids composed of a hydrophobic ceramide linked to one sugar unit. In fungal cells, CMHs are very conserved molecules consisting of a ceramide moiety containing 9-methyl-4,8-sphingadienine in ...
Barreto-Bergter Eliana, Pinto Marcia R., Rodrigues Marcio L.   +2 more
doaj  

Association of NGF receptors with membrane rafts in PC12 cells : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry at Massey University [PDF]

, 2001
Nerve Growth Factor (NGF) signal transduction is involved in the survival, differentiation and maintenance of neurons through the receptors TrkA and p75NTR. These receptors activate downstream protein kinase cascades that regulate cell survival.
Clements, Shona Marie
core  

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
wiley   +1 more source

Abnormalities of glycosphingolipids in mucopolysaccharidosis type III B.

Journal of Lipid Research, 1984
Glycosphingolipids from brain, liver, and spleen of a patient with mucopolysaccharidosis type III B were quantitatively analyzed. Neutral glycosphingolipids containing glucosylceramide, lactosylceramide, globotriaosylceramide, globotetraosylceramide, and
A Hara, N Kitazawa, T Taketomi
doaj   +1 more source

Development and Characterisation of a Starvation‐ and Exercise‐Induced Murine Model of Microvesicular Steatosis Relevant to Anorexia Nervosa

Liver International Communications, Volume 7, Issue 1, March 2026.
ABSTRACT Anorexia nervosa (AN) leads to severe dietary restriction, low body weight, and in many patients, hepatocellular steatosis. Clinically, hepatic fat in AN is usually macrovesicular, whereas microvesicular steatosis is more often associated with severe starvation and mitochondrial dysfunction.
Michiko Ishii, Kyoko Hoshikawa, Yuko Takeda, Taketo Nishina, Fumi Uchiyama, Fumiya Suzuki, Keita Maki, Tomohiro Katsumi, Hiroaki Haga, Yoshiyuki Ueno   +9 more
wiley   +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