Results 141 to 150 of about 3,748 (212)

Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1.

FEBS letters
Niemann-Pick type C disease (NPCD) is a rare neurodegenerative disorder most commonly caused by mutations in the lysosomal protein Niemann-Pick C1 (NPC1), which is implicated in cholesterol export. Mitochondrial insufficiency forms a significant feature of the pathology of this disease, yet studies attempting to address this are rare.
Wheeler, S., Bhardwaj, M., Kenyon, V., Guimaraes Da Lomba Ferraz, M.J., Aerts, J.M.F.G., Sillence, D.J.   +5 more
openaire   +2 more sources

Host-Pathogen Interaction 5.0. [PDF]

Int J Mol Sci
Burkovski A.
europepmc   +1 more source

Multiple sphingolipid-metabolizing enzymes modulate influenza virus replication. [PDF]

Virology
McKenna S, Jung KI, Wolf JJ, Seo YJ, Hahm B.   +4 more
europepmc   +1 more source

Different and unusual presentation of Gaucher's disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report. [PDF]

J Med Case Rep
Keikhaei B, Mafakher L.
europepmc   +1 more source

Near complete genome sequence of the animal feed probiotic, H57 [PDF]

core   +1 more source

Does Amyotrophic Lateral Sclerosis (ALS) Have Metabolic Causes from Human Evolution? [PDF]

Cells
Spedding M.
europepmc   +1 more source

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes. [PDF]

Orphanet J Rare Dis
Kilavuz S, Wallom KL, Caçote ACGAA, Donald A, D'Amore S, Page K, Tan CY, Te Vruchte D, Sturchio A, Tsitsi P, Hertz E, Andréasson M, Markaki I, Svenningsson P, Cox TM, Platt FM, MRC GAUCHERITE Consortium.   +16 more
europepmc   +1 more source

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility. [PDF]

Mov Disord
Parlar SC, Lee Y, Gan-Or Z.
europepmc   +1 more source

Lipid accumulation drives cellular senescence in dopaminergic neurons. [PDF]

Aging (Albany NY)
Russo T, Riessland M.
europepmc   +1 more source

Development of a Lentiviral Vector for High-Yield Production of Synthetic and Recombinant GCase for Gaucher Disease Therapy. [PDF]

Int J Mol Sci
Coelho AC, Wiezel CEV, de Campos AC, Figueiredo LLS, Suardi GAM, de Paula Bernardes J, da Cunha Tirapelli DP, Faça VM, Abraham KJ, Carlotti-Júnior CG, Siciliano V, Weiss R, Gerson S, Fontes AM.   +13 more
europepmc   +1 more source