Results 201 to 210 of about 25,002 (280)

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

Lysosomal storage disorders [PDF]

The Indian Journal of Pediatrics, 1999
openaire   +1 more source

Genetic Susceptibility to Periodontitis

Journal of Periodontal Research, EarlyView.
Aim: The aim of this narrative review was to identify genes carrying risk alleles associated with an increased risk of periodontitis and to place them in a biological context. Methods: The literature was reviewed based on predefined criteria. Results: The identified genes largely fall into functions linking immune response with tissue repair. The genes
Gesa M. Richter, Arne S. Schaefer
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

The Role of Oxidative Stress in Periodontitis

Journal of Periodontal Research, EarlyView.
Oxidative stress is involved in multiple chemical reactions that take place in different intracellular organelles: mitochondria, rough endoplasmic reticulum, peroxisomes, autophagy, and aging, and can be influenced by exogenous factors: nutrition, physical activity, psychological status, environmental conditions, microbiome, and drugs.
Pedro Bullon, Francesca Giampieri, Beatriz Bullon, Maurizio Battino   +3 more
wiley   +1 more source

Neuronal Ceroid Lipofuscinosis-like Disorder in a Dachshund with Sequence Variants in Lysosome-Related Genes. [PDF]

Genes (Basel)
Coates JR, Keyes K, Whiting REH, Kuroki J, Morgan-Jack B, Mhlanga-Mutangadura T, Kuroki K, Katz ML.   +7 more
europepmc   +1 more source

Bilateral Adrenal Calcifications as an Imaging Clue to Wolman Disease in Early Infancy: A Case Report. [PDF]

Cureus
Niño JC, Caicedo CA, Cárdenas J.
europepmc   +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

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source