Results 171 to 180 of about 22,003 (247)

Lysosomal Storage Disorders

, 2019
Daniel Bell, Sepehr Haghighi, Tristan Skalina   +2 more
openaire   +2 more sources

A novel transgenic mouse model of lysosomal storage disorder.

Am J Physiol Gastrointest Liver Physiol, 2016
Ortiz-Miranda S, Ji R, Jurczyk A, Aryee KE, Mo S, Fletcher T, Shaffer SA, Greiner DL, Bortell R, Gregg RG, Cheng A, Hennings LJ, Rittenhouse AR.   +12 more
europepmc   +1 more source

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

The FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer, Giuseppina De Rocco, Moritz Völker‐Albert, Ignasi Forne, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri   +6 more
wiley   +1 more source

Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological Autopsy. [PDF]

Diagnostics (Basel)
Trandafirescu MF, Avădănei ER, Filip N, Saveanu CI, Foia I, Toma V, Baroi LG, Anton-Paduraru DT, Moisa SM, Lozneanu L.   +9 more
europepmc   +1 more source

The epigenetic landscape of skeletal muscle in response to exercise and aging

The FEBS Journal, EarlyView.
Epigenetic mechanisms regulate gene expression in response to exercise and aging, thereby supporting skeletal muscle plasticity. Acute exercise induces chromatin remodeling through histone modifications and DNA methylation, promoting the expression of exercise‐responsive genes.
Sabrina Champsi, David A. Hood
wiley   +1 more source

PEG-lipid micelles enable cholesterol efflux in Niemann-Pick Type C1 disease-based lysosomal storage disorder. [PDF]

Sci Rep, 2016
Brown A, Patel S, Ward C, Lorenz A, Ortiz M, DuRoss A, Wieghardt F, Esch A, Otten EG, Heiser LM, Korolchuk VI, Sun C, Sarkar S, Sahay G.   +13 more
europepmc   +1 more source

RNF13 regulates the endolysosomal pathway through interaction with the small GTPase Arl8B

The FEBS Journal, EarlyView.
The E3 ubiquitin ligase RNF13 functions as a regulatory scaffold, organizing Arl8B‐dependent complexes and tuning downstream signaling that controls endolysosomal organization and trafficking. In this model, wild‐type RNF13 associates with Arl8B on endolysosomes, whereas Arl8B (E22D/F55A) or RNF13 (L244A) variants weaken complex assembly, potentially ...
Audrey M. Sénécal, Valérie C. Cabana, Antoine Y. Bouchard, Laurent Cappadocia, Marc P. Lussier   +4 more
wiley   +1 more source

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
europepmc   +1 more source

CD36‐mediated lipid rewiring in the metabolic adaptation of tumour ecosystems

The FEBS Journal, EarlyView.
Nutrient deprivation drives a lipid‐centric shift in tumour metabolic symbiosis and signalling network. CD36 functions as a bidirectional bridge, transferring fatty acids from stromal donors (adipocytes, CAFs) to the ecosystem tumour‐ and microenvironment‐dependently.
Anna Sebestyén, Viktória Varga, Fatime Szalai, Risa Miyaura, Nóra Förhécz, Bálint Csikós, Rebeka Gelencsér, Zsófia Gábriel, Timea Komlódi, Katalin Dezső, Ildikó Krencz, Dorottya Moldvai   +11 more
wiley   +1 more source

Cholesteryl ester storage disease-a rare case of elevated liver enzymes and cholesterol levels with similarities to familial hypercholesterolaemia: a case report. [PDF]

Eur Heart J Case Rep
Martinsen MH, Højland A, Kvistgaard H, Bork C.   +3 more
europepmc   +1 more source