Results 91 to 100 of about 6,608 (209)

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions

European Journal of Neurology, Volume 32, Issue 5, May 2025.
GALC Defects and Neurodegenerative Impact: Exploring the role of GALC variants in adults with neurodegenerative symptoms and identifying an undiagnosed case of adult‐onset Krabbe disease. Metabolic Interplay: Focus on interrelated pathways as potential risk factors for neurodegeneration in heterozygous lysosomal storage disorder carriers.
Federica Feo, Luciana Tramacere, Silvia Ramat, Alessandra Govoni, Luca Caremani, Giulia Grigioni, Davide Mei, Silvia Falliano, Francesca Marin, Lorenzo Ferri, Antonella Paoli, Marina Rinaldi, Giancarlo la Marca, Daniela Ombrone, Elena Procopio, Renzo Guerrini, Amelia Morrone, Anna Caciotti   +17 more
wiley   +1 more source

MAPK-activated protein kinase 2-deficiency causes hyperacute tumor necrosis factor-induced inflammatory shock [PDF]

, 2014
Background: MAPK-activated protein kinase 2 (MK2) plays a pivotal role in the cell response to (inflammatory) stress. Among others, MK2 is known to be involved in the regulation of cytokine mRNA metabolism and regulation of actin cytoskeleton dynamics ...
Vandendriessche, Benjamin, Goethals, An, Simats, Alba, Van Hamme, Evelien, Brouckaert, Peter, Cauwels, Anje   +5 more
core   +1 more source

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis

Clinical and Translational Science, Volume 18, Issue 3, March 2025.
ABSTRACT GM1 and GM2 gangliosidosis are inherited, progressive, neurodegenerative lysosomal disorders of variable onset and disease progression. GM1 gangliosidosis is a result of biallelic pathogenic variants in the GLB1 gene, which confer absent or reduced β‐galactosidase enzyme activity and lead to the accumulation of glycoconjugates such as ...
Sydney Stern, Karryn Crisamore, Ruo‐Jing Li, Michael Pacanowski, Robert Schuck   +4 more
wiley   +1 more source

Organelle‐Targeting Nanoparticles

Advanced Science, Volume 12, Issue 7, February 17, 2025.
This review examines nanoparticle‐based therapies targeting organelles like the nucleus, mitochondria, and lysosomes. Nanoparticle design, targeting strategies, and their applications in treating diseases linked to organelle dysfunction are discussed, highlighting the potential for improved treatment outcomes and reduced off‐target effects.
John Soukar, Nicholas A. Peppas, Akhilesh K. Gaharwar   +2 more
wiley   +1 more source

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Heliyon, 2020
Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport,
María Alejandra Puentes-Tellez, Paula Andrea Lerma-Barbosa, Rafael Guillermo Garzón-Jaramillo, Diego A. Suarez, Angela J. Espejo-Mojica, Johana M. Guevara, Olga Yaneth Echeverri, Daniela Solano-Galarza, Alfredo Uribe-Ardila, Carlos J. Alméciga-Díaz   +9 more
doaj   +1 more source

Fingolimod for the treatment of neurological diseases—state of play and future perspectives [PDF]

, 2014
Sphingolipids are a fascinating class of signaling molecules derived from the membrane lipid sphingomyelin. They show abundant expression in the brain.
Rajkumar Vutukuri, Robert Brunkhorst, Waltraud Pfeilschifter   +2 more
core   +2 more sources

Impaired neural differentiation of induced pluripotent stem cells generated from a mouse model of Sandhoff disease.

PLoS ONE, 2013
Sandhoff disease (SD) is a glycosphingolipid storage disease that arises from mutations in the Hexb gene and the resultant deficiency in β-hexosaminidase activity.
Yasuhiro Ogawa, Makoto Tanaka, Miho Tanabe, Toshihiro Suzuki, Tadayasu Togawa, Tomoko Fukushige, Takuro Kanekura, Hitoshi Sakuraba, Kazuhiko Oishi   +8 more
doaj   +1 more source

A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]

, 2010
Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús, Barboza Quintana, Oralia, Barboza Quintana, Álvaro, Garza Alatorre, Arturo Gerardo, Melo de la Garza, Américo, Ponce Camacho, Marco Antonio, Ramírez Bon, Enrique, Rodríguez Gutiérrez, Nora Alicia   +7 more
core  

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

BMC Medical Genetics, 2019
Background Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden. Methods We investigated the cause of
Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad, Asma Gul   +10 more
doaj   +1 more source