Results 61 to 70 of about 5,921 (149)

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment

Diagnostics
The liver, given its role as the central metabolic organ, is involved in many inherited metabolic disorders, including lysosomal storage diseases (LSDs).
Patryk Lipiński, Anna Tylki-Szymańska
doaj   +1 more source

Systemic dysregulation of apolipoproteins in amyotrophic lateral sclerosis serum

FEBS Open Bio, Volume 16, Issue 8, Page 1550-1562, August 2026.
Amyotrophic lateral sclerosis (ALS) is a fatal disease that damages motor neurons. This study found that people with ALS show significant changes in blood fats and the proteins that carry them. Several apolipoproteins were higher, lipid balances were altered, and normal protein–lipid relationships were disrupted.
Finula I. Isik, Russell Pickford, Hannah C. Timmins, Olivier Piguet, Glenda M. Halliday, Matthew C. Kiernan, Woojin Scott Kim   +6 more
wiley   +1 more source

Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

Orphanet Journal of Rare Diseases, 2022
Background Olipudase alfa is a recombinant human acid sphingomyelinase (ASM) enzyme replacement therapy (ERT) for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD).
George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar   +12 more
doaj   +1 more source

Postbiotics in Food Systems: Components, Production Methods, Food Applications, Functional Properties, and Technological Challenges

Food Science &Nutrition, Volume 14, Issue 8, August 2026.
This review provides a comprehensive, engineering‐oriented synthesis of postbiotics as next‐generation functional food ingredients. It first outlines the principal production routes for postbiotic generation, encompassing thermal technologies, non‐thermal technologies, and extraction/purification methods, and subsequently examines the analytical and ...
Tansu Taspinar, Nuray Güzeler
wiley   +1 more source

Amino Acid and Lipid Metabolism in Cancer: Mechanisms and Therapeutic Opportunities

MedComm, Volume 7, Issue 8, August 2026.
Amino Acid and lipid metabolism in cancer: (A) Regulation of Amino acid transportation and metabolism in cancer. (B) The core organization of lipid metabolic reprogramming in cancer and their functional consequences. ABSTRACT Metabolic reprogramming is a defining feature of cancer and a major contributor to immune escape.
Zixu Wang, Xin Fu, Jingchao Bai, Yanguo Liu, Kai Huang   +4 more
wiley   +1 more source

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Orphanet Journal of Rare Diseases, 2023
Background Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adults with ASMD
Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar   +20 more
doaj   +1 more source

GLS1 Orchestrates Exosome‐Mediated Tumor‐Endothelial Communication to Facilitate Angiogenesis

Advanced Science, Volume 13, Issue 41, 22 July 2026.
This study reveals a previously unappreciated, non‐metabolic function of GLS1 in the control of tumor angiogenesis via exosome‐mediated CAV1‐TNC signaling, indicating that therapeutic targeting of GLS1 may offer a dual benefit by simultaneously suppressing tumor metabolic activity and angiogenic processes in head and neck cancer. ABSTRACT Glutaminase 1
Jianqiang Yang, Zhenzhen Fu, Fanghui Chen, Soumya Vijaya Kumar, Fan Yang, Yaochao Zheng, Yunqi Li, Yao Yao, Nabil F. Saba, Yong Teng   +9 more
wiley   +1 more source

A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient

Molecular Genetics and Metabolism Reports
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with multisystemic involvement. We report a 68-year-old asplenic man with late-onset ASMD and severe interstitial lung disease, chronic respiratory failure, and markedly reduced
Arlindo Guimas, Esmeralda Martins
doaj   +1 more source

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

Orphanet Journal of Rare Diseases, 2013
Background Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce.
Zhang Huiwen, Wang Yu, Gong Zhuwen, Li Xiaoyan, Qiu Wenjuan, Han Lianshu, Ye Jun, Gu Xuefan   +7 more
doaj   +1 more source

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

Molecular Genetics and Metabolism Reports, 2020
Acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick Disease [NPD] A and B) is a rare lysosomal storage disease characterized by the pathological accumulation of sphingomyelin within multiple cell types throughout the body.
Beth L. Thurberg
doaj   +1 more source