Results 191 to 200 of about 40,385 (227)

Health care costs of home care enzyme replacement therapy for patients with lysosomal storage diseases in Germany. [PDF]

Orphanet J Rare Dis
Heinrich R, Claus F, Schoenfelder T.
europepmc   +1 more source

TRIM Expression and Its Association With Disease Activity in Systemic Lupus Erythematosus

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with diverse manifestations, including rash, arthritis, and nephritis. Although autoantibodies are a key feature of SLE, their levels often poorly reflect disease severity, suggesting the involvement of additional contributing factors.
Ling‐Ying Lu, Ling‐Jung Yen, Hui‐Ling Hsia, Zi‐Xeng Weng, Chi‐Hsiang Chung, Paul Wei‐Che Hsu, Chih‐Wei Chiu, Wu‐Chien Chien, Tsung‐Hsien Chang   +8 more
wiley   +1 more source

A PIKfyve modulator combined with an integrated stress response inhibitor to treat lysosomal storage diseases. [PDF]

Proc Natl Acad Sci U S A
Hou WC, Massey LA, Rhoades D, Wu Y, Ren W, Frank C, Overkleeft HS, Kelly JW.   +7 more
europepmc   +1 more source

Elevation of Stearoyl‐Coenzyme A Desaturase and Monounsaturated Fatty Acids in Parkinson's Disease Serum

Movement Disorders, EarlyView.
Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik, Russell Pickford, Michelle Chua, Simon J.G. Lewis, Nicolas Dzamko, Woojin Scott Kim   +5 more
wiley   +1 more source

Hematopoietic stem cell gene therapy of neurometabolic lysosomal storage diseases.

Brain Dev
Consiglieri G, Tucci F, Bernardo ME.
europepmc   +1 more source

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases. [PDF]

J Community Genet
Trapp FB, Riegel M, Michelin-Tirelli K, da Silva LAL, Iop GD, Bender-Pasetto F, Sebastião FM, da Silva Moraes I, Lopes FF, Dos Santos ORT, da Rosa Pereira F, Silva LP, Luiz AA, da Silva CA, Lucas KDP, Netto ABO, Brasil CS, Leistner S, Brusius-Facchin AC, Deon M, Civallero GES, Giugliani R.   +21 more
europepmc   +1 more source

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland, Sygrid van der Zee, Sven C.D. van Ijzendoorn, Anne C. Slomp, Jeffrey M. Boertien, Sanne K. Meles, Arjan Kol, Marie Geerlings, Teus van Laar   +8 more
wiley   +1 more source

Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems. [PDF]

BioDrugs
Beraza-Millor M, Rodríguez-Castejón J, Del Pozo-Rodríguez A, Rodríguez-Gascón A, Solinís MÁ.   +4 more
europepmc   +1 more source

SnapShot: Lysosomal Storage Diseases. [PDF]

Cell, 2020
Martina JA, Raben N, Puertollano R.
europepmc   +1 more source