Results 1 to 10 of about 448 (120)

Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates lysosomal compartment through mammalian target of rapamycin complex 1. [PDF]

Stem Cells Transl Med, 2021
Proposed model of glucosylsphingosine (GlcSph)‐mediated lysosomal dysfunction in neuronopathic Gaucher disease neurons. Mutant β‐glucocerebrosidase (GCase) causes the accumulation of glucosylceramide (GlcCer), which is converted to GlcSph by acid ceramidase in the lysosome.
Srikanth MP, Jones JW, Kane M, Awad O, Park TS, Zambidis ET, Feldman RA.   +6 more
europepmc   +2 more sources

Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation. [PDF]

Commun Biol, 2023
Gaucher Disease (GD), the most common lysosomal disorder, arises from mutations in the GBA1 gene and is characterized by a wide spectrum of phenotypes, ranging from mild hematological and visceral involvement to severe neurological disease. Neuronopathic
Messelodi D, Strocchi S, Bertuccio SN, Baden P, Indio V, Giorgi FM, Taddia A, Serravalle S, Valente S, di Fonzo A, Frattini E, Bernardoni R, Pession A, Grifoni D, Deleidi M, Astolfi A, Pession A.   +16 more
europepmc   +5 more sources

Stop-band type NGD RLC-resonant circuit sensitivity analysis

Advanced Electromagnetics, 2023
This paper investigates on the rarely studied negative group delay (NGD) RF circuit with innovative stop-band (SB) behavior. In difference with the classical filter, the SB-NGD function is identified in function of frequency bands where the group delay (
J. R. Sambatra, F. Haddad, S. Ngoho, M. Guerin, W. Rahajandraibe, G. H. Bilal, G. Fontgalland, H. S. Silva, B. Ravelo   +8 more
doaj   +3 more sources

Not4-dependent targeting of MMF1 mRNA to mitochondria limits its expression via ribosome pausing, Egd1 ubiquitination, Caf130, no-go-decay and autophagy. [PDF]

Nucleic Acids Res, 2023
Chen S, Allen G, Panasenko OO, Collart MA.   +3 more
europepmc   +1 more source

Changes in the Transcriptome Caused by Mutations in the Ribosomal Protein uS10 Associated with a Predisposition to Colorectal Cancer. [PDF]

Int J Mol Sci, 2022
Tian Y, Babaylova ES, Gopanenko AV, Tupikin AE, Kabilov MR, Malygin AA, Karpova GG.   +6 more
europepmc   +1 more source

CD157 in bone marrow mesenchymal stem cells mediates mitochondrial production and transfer to improve neuronal apoptosis and functional recovery after spinal cord injury. [PDF]

Stem Cell Res Ther, 2021
Li J, Li H, Cai S, Bai S, Cai H, Zhang X.   +5 more
europepmc   +1 more source

Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders. [PDF]

Bioengineering (Basel), 2022
Ghasemzad M, Hashemi M, Lavasani ZM, Hossein-Khannazer N, Bakhshandeh H, Gramignoli R, Keshavarz Alikhani H, Najimi M, Nikeghbalian S, Vosough M.   +9 more
europepmc   +1 more source

Biological correlates of altered circadian rhythms, autonomic functions and sleep problems in autism spectrum disorder. [PDF]

Ann Gen Psychiatry, 2022
Dell'Osso L, Massoni L, Battaglini S, Cremone IM, Carmassi C, Carpita B.   +5 more
europepmc   +1 more source

Bacterial Volatiles (mVOC) Emitted by the Phytopathogen Erwinia amylovora Promote Arabidopsis thaliana Growth and Oxidative Stress. [PDF]

Antioxidants (Basel), 2023
Parmagnani AS, Kanchiswamy CN, Paponov IA, Bossi S, Malnoy M, Maffei ME.   +5 more
europepmc   +1 more source

Experiences of living with leprosy: A systematic review and qualitative evidence synthesis. [PDF]

PLoS Negl Trop Dis, 2022
Abdul Rahman N, Rajaratnam V, Burchell GL, Peters RMH, Zweekhorst MBM.   +4 more
europepmc   +1 more source