Results 141 to 150 of about 16,645,960 (212)

The c-Abl-RIPK3 Axis Drives Mitochondrial Dysfunction and Impaired Mitophagy in Gaucher Disease Models. [PDF]

Antioxidants (Basel)
Lamaizon CM, Tironi-Hernández R, Arévalo NB, Ahumada SD, Gutiérrez DA, Brito-Fernández L, Del Campo A, Zanlungo S, Álvarez AR.   +8 more
europepmc   +1 more source

The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer. [PDF]

Cell Death Discov
Fantini V, Di Rauso G, Fioravanti V, Ciarrocchi A, Cavallieri F, Sancisi V.   +5 more
europepmc   +1 more source

Sphingolipid metabolism and hematologic disorders: current understanding and future directions. [PDF]

Front Physiol
Kuang Z, Huang T, Chen G.
europepmc   +1 more source

Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review. [PDF]

Hum Genomics
Konarbayeva A, Atavliyeva S, Auganova D, Baduanova S, Tarlykov P.   +4 more
europepmc   +1 more source

Chronic Myeloid Leukemia Transforming into Acute Lymphoblastic Leukemia in a Patient with Gaucher Disease: A Case Report and Literature Review. [PDF]

Case Rep Oncol
Sayınalp Arslan B, Çatan Erdekli FT, Sağlam Ayhan A, Aladağ Karakulak E, Malkan ÜY, Büyükaşık Y.   +5 more
europepmc   +1 more source

Safety and Efficacy of Ambroxol Therapy in Polish Patients with Gaucher Disease. [PDF]

Life (Basel)
Lipiński P, Rokicki D, Chwiałkowska K, Ciborowski M, Godzień J, Jezela-Stanek A, Korotko U, Kwaśniewski M, Niemira M, Szymańska-Rożek P, Syczewska M, Tylki-Szymańska A.   +11 more
europepmc   +1 more source

Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease. [PDF]

Int J Mol Sci
Carubbi F, Linari S, Spada M.
europepmc   +1 more source

Genetic Architecture of Synaptic Failure in Dementia with Lewy Bodies: From α-Synuclein Proteoforms to GBA1-Mediated Plasticity Deficits. [PDF]

Genes (Basel)
Bougea A.
europepmc   +1 more source

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution. [PDF]

Cureus
Kumar N, Dange P, Samadder A, Kalita S, Kaushik JS.   +4 more
europepmc   +1 more source

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