Results 41 to 50 of about 929 (148)

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He, Kang Xie, Kang Yang, Nianhua Wang, Longbo Zhang   +4 more
wiley   +1 more source

Isolation and Quantification of Sphingosine and Sphinganine from Rat Serum Revealed Gender Differences

Biomolecules, 2019
Sphingolipids are an important group of lipids that play crucial roles in living cells, facilitating cell recognition, signal transduction and endocytosis.
Graham Brogden, Diab M. Husein, Pablo Steinberg, Hassan Y. Naim   +3 more
doaj   +1 more source

Late‐Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
We report two cases of late‐onset Krabbe disease (KD) from a Chinese family. This study broadens the consideration of KD in the diagnosis of patients presenting with muscle weakness and deformities in the lower limbs. ABSTRACT Background Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects ...
Yujun Sun, Jiayuan Zheng, Lei He, Xiaojuan Li, Wenzhou Liu, Jionglin Wu, Jiajie Li, Taolue Zhou, Gang Zeng, Weidong Song, Yanbo Chen   +10 more
wiley   +1 more source

Current developments of gene therapy in human diseases

MedComm, Volume 5, Issue 9, September 2024.
Gene therapy has seen remarkable advancements in recent decades, demonstrating its immense potential in treating a wide range of genetic and acquired diseases. Several AAV gene therapy products have been introduced to the market, addressing various conditions.
Fanfei Liu, Ruiting Li, Zilin Zhu, Yang Yang, Fang Lu   +4 more
wiley   +1 more source

Ceramide synthase inhibition by fumonisins: a perfect storm of perturbed sphingolipid metabolism, signaling, and disease[S]

Journal of Lipid Research, 2019
Fumonisins are mycotoxins that cause diseases of plants and, when consumed by animals, can damage liver, kidney, lung, brain, and other organs, alter immune function, and cause developmental defects and cancer.
Ronald T. Riley, Alfred H. Merrill, Jr.
doaj   +1 more source

Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D

Annals of Clinical and Translational Neurology, Volume 11, Issue 7, Page 1715-1731, July 2024.
Abstract Objective Krabbe disease (KD) is a multisystem neurodegenerative disorder with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late‐onset phenotypes, symptoms are often milder and difficult to diagnose.
Rebecca Mächtel, Jan‐Philipp Dobert, Ute Hehr, Alexander Weiss, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke   +10 more
wiley   +1 more source

A little bit about sphingolipidoses in cardiology: a clinical case of Fabry disease

Терапевтический архив
The article presents a clinical case of Fabry disease in a woman, characterized by multisystemic lesions, late onset and predominant clinical picture of heart failure.
Artyom A. Vedernikov, Evgeny M. Mezhonov, Nikita E. Shirokov, Alexandra M. Adamchuk, Valentina A. Balina, Oleg M. Reitblat, Valentina I. Larionova, Sergey V. Shalaev   +7 more
doaj   +1 more source

Inhibition of the IGF-1–PI3K–Akt–mTORC2 pathway in lipid rafts increases neuronal vulnerability in a genetic lysosomal glycosphingolipidosis

Disease Models & Mechanisms, 2019
Glycosphingolipid (GSL) accumulation is implicated in the neuropathology of several lysosomal conditions, such as Krabbe disease, and may also contribute to neuronal and glial dysfunction in adult-onset conditions such as Parkinson's disease, Alzheimer's
Tuba Sural-Fehr, Harinder Singh, Ludovico Cantuti-Catelvetri, Hongling Zhu, Michael S. Marshall, Rima Rebiai, Martin J. Jastrzebski, Maria I. Givogri, Mark M. Rasenick, Ernesto R. Bongarzone   +9 more
doaj   +1 more source

Recent Advances in the Biochemistry of Sphingolipidoses

Brain Pathology, 1998
Glycosphingolipids are ubiquitous membrane components of eukaryotic cells. They participate in various cell recognition events and can regulate enzymes and receptors within the plasma membrane. Sphingolipidoses are due to an impaired lysosomal digestion of these substances.
T, Kolter, K, Sandhoff
openaire   +3 more sources

Synaptic failure: The achilles tendon of sphingolipidoses [PDF]

Journal of Neuroscience Research, 2016
The presence of life‐threatening neurological symptoms in more than two‐thirds of lysosomal storage diseases (LSDs) underscores how vulnerable the nervous system is to lysosomal failure. Neurological dysfunction in LSDs has historically been attributed to the disruption of neuronal and glial homeostasis resulting from the progressive jamming of the ...
Cantuti Castelvetri, L., Bongarzone, E.
openaire   +3 more sources