Results 141 to 150 of about 9,175 (221)

Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis. [PDF]

Orphanet J Rare Dis
Liu Y, Luo X, Ranjbar S, Aerts JMFG, van der Lienden M, Dardis A, Fleming RMT.   +6 more
europepmc   +1 more source

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies. [PDF]

Elife
Lin Y, Liou B, Fannin V, Adler S, Mayhew CN, Hammonds JE, Hu YC, Tchieu J, Zhang W, Zhao X, Beres RL, Setchell KDR, Kaynak A, Qi X, Feldman RA, Sun Y.   +15 more
europepmc   +1 more source

Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid. [PDF]

Cell Mol Biol Lett
Le Guillou E, Segaloni A, Gadault A, Oliveira Dias C, Henneman NF, Su M, Nemazanyy I, Hifdi N, Nivet-Antoine V, Laemmerhofer M, Hnia K, Caillaud C, Panasyuk G.   +12 more
europepmc   +1 more source

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]

J Inherit Metab Dis
Ain NU, Vaishnaw M, Mistry PK.
europepmc   +1 more source

The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry. [PDF]

Orphanet J Rare Dis
Mistry PK, Carwile JL, Burrow TA, Tantawy AAG, Camelo JS, Ganesh J, Batsu I, Perichon MG, Oliveira-Dos-Santos A, Batista JL.   +9 more
europepmc   +1 more source

Contradictory Effects on Hepatocytes in ASMD. [PDF]

Int J Mol Sci
Sysoev M, Solovyov D, Shestopalov A, Kutsev S.   +3 more
europepmc   +1 more source

A 53-week, open-label phase IIIb study of velaglucerase alfa in Chinese patients with type 1 Gaucher disease: Safety, efficacy, and pharmacokinetics. [PDF]

Mol Genet Metab Rep
Zhang L, Luo XQ, Fang Y, Zhang F, Meng Y, Luo X, Zhang L, Qiu Z, Ge X, Botha J, Zhan J, Wang T.   +11 more
europepmc   +1 more source

Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies. [PDF]

Int J Mol Sci
Fattahi N, Ruan J, Belinsky G, Xing S, Mistry PK, Nair S.   +5 more
europepmc   +1 more source

Glucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher Disease. [PDF]

Int J Mol Sci
Dinur T, Bauer P, Schroeder S, Kramp G, Beetz C, Becker-Cohen M, Istaiti M, Frydman D, Shulman E, Zimran A, Revel-Vilk S.   +10 more
europepmc   +1 more source

Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies. [PDF]

J Clin Med
Zimran A, Botha J, Eastell R, Ficicioglu C, Finkelman RD, Frydman D, Giraldo P, Goker-Alpan O, Kishnani PS, Lau H, Ruhrman-Shahar N, Hughes DA.   +11 more
europepmc   +1 more source