Results 81 to 90 of about 25,072 (275)

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein, Carla E. Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Beth L. Thurberg, Jesus Villarrubia, Nicole M. Armstrong, Shashi Bhushan, Yong Kim, Monica Kumar   +20 more
wiley   +1 more source

Short‐Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Mucopolysaccharidosis type III (MPS III) is a group of autosomal recessive neurodegenerative lysosomal storage disorders that causes progressive cognitive and physical impairment, predominantly in child/early adulthood. The median age of death is 17 years as there is no safe, effective treatment approved.
Helen Beard, Sonia Dayan, Karissa Barthelson, Laura Hewson, Louise V. O'Keefe, Kim M. Hemsley   +5 more
wiley   +1 more source

Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process. [PDF]

, 2019
To understand the impact of epigenetics on human misfolding disease, we apply Gaussian-process regression (GPR) based machine learning (ML) (GPR-ML) through variation spatial profiling (VSP). VSP generates population-based matrices describing the spatial
Balch, William E, Farhat, Nicole Y, Hutt, Darren M, Loguercio, Salvatore, Porter, Forbes D, Scott, Samantha M, Subramanian, Kanagaraj, Wang, Chao, Zhao, Pei   +8 more
core   +1 more source

Liver Fibrosis: Molecular Pathogenesis and Therapeutic Interventions

MedComm, Volume 7, Issue 5, May 2026.
We systematically summarized the etiologies, diagnostic approaches, and pathogenic mechanisms of liver fibrosis. Also, the therapeutic interventions for liver fibrosis were systematically classified into two main categories: etiological treatment and mechanism‐based antifibrotic therapies.
Jiaorong Qu, Wenqing Qin, Minghang Dong, Zhi Ma, Si Li, Runping Liu, Ranyun Chen, Changmeng Li, Xiaojiaoyang Li   +8 more
wiley   +1 more source

Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases

Molecular Genetics and Metabolism Reports, 2019
Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are characterized by malfunctioning lysosomes.
Evangelia Dimitriou, Evangelia Paschali, Maria Kanariou, Helen Michelakakis   +3 more
doaj   +1 more source

Steps towards collective sustainability in biomedical research [PDF]

, 2018
The optimism surrounding multistakeholder research initiatives does not match the clear view of policies that are needed to exploit the potential of these collaborations.
Abbracchio, Maria Pia, Andreaus, Michele, Battaglia, Mario A., Costa, Ericka, Kapoor, Raj, Lubetzki, Catherine, Matarese, Giuseppe, Ristori, Giovanni, Salvetti, Marco, Zaratin, Paola   +9 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Frontiers in Immunology, 2019
The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases ...
Catia S. Pereira, Catia S. Pereira, Begoña Pérez-Cabezas, Begoña Pérez-Cabezas, Helena Ribeiro, Helena Ribeiro, Helena Ribeiro, M. Luz Maia, M. Teresa Cardoso, Ana F. Dias, Olga Azevedo, M. Fatima Ferreira, Paula Garcia, Esmeralda Rodrigues, Paulo Castro-Chaves, Esmeralda Martins, Patricio Aguiar, Mercè Pineda, Yasmina Amraoui, Simona Fecarotta, Elisa Leão-Teles, Shenglou Deng, Paul B. Savage, M. Fatima Macedo, M. Fatima Macedo, M. Fatima Macedo   +25 more
doaj   +1 more source

Les sphingolipides : vecteurs d’agents pathogènes et cause de maladies génétiques [PDF]

, 2006
Les sphingolipides (SPL) sont des molécules ubiquitaires indispensables au maintien et au développement des organismes vivants. Ils ne sont pas répartis uniformément le long de la membrane mais regroupés sous forme de microdomaines lipidiques appelés ...
Fasano, Caroline, Hiol, Abel, Miolan, Jean-Pierre, Niel, Jean-Pierre   +3 more
core   +1 more source

Upregulation of sphingomyelin and ABCA8 in response to TDP‐43 pathology in amyotrophic lateral sclerosis brain

Brain Pathology, Volume 36, Issue 3, May 2026.
Increases in sphingomyelin in response to TDP‐43 pathology in the disease‐affected motor cortex of amyotrophic lateral sclerosis (ALS) brain. Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43 ...
Finula I. Isik, Russell Pickford, Nicolas Dzamko, Kerry‐Anne Rye, Woojin Scott Kim   +4 more
wiley   +1 more source