Results 271 to 280 of about 11,870,254 (353)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Mitochondrial metabolism and cancer therapeutic innovation. [PDF]

Signal Transduct Target Ther
Du H, Xu T, Yu S, Wu S, Zhang J.
europepmc   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Multi-omics and AI-driven advances in miRNA-mediated hair follicle regulation in cashmere goats. [PDF]

Front Vet Sci
Chunhua Z, Le F, Shengli L, Sachula W, Bao H, Lan M, Antonini M, Haizhou S.   +7 more
europepmc   +1 more source

The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh, Ruchi Tanavade, Nik Krajnc, Fabian Föttinger, Theresa König, Martin Krenn, Lukas Haider, Barbara Kornek, Fritz Leutmezer, Kerstin U. Ludwig, Stefan Macher, Tobias Monschein, Markus Ponleitner, Paulus Rommer, Christiane Schmied, Karin Zebenholzer, Tobias Zrzavy, Gudrun Zulehner, Franziska Di Pauli, Axel Schmidt, Harald Hegen, Berthold Pemp, Thomas Berger   +22 more
wiley   +1 more source

What's on the menu?: metabolic constraints in the pancreatic tumor microenvironment. [PDF]

J Clin Invest
Sheehan C, Muir A.
europepmc   +1 more source

Statistical Optimization of Culture Conditions for Enhanced Biomass Yield of <i>Lactobacillus acidophilus</i> CM1 Using Plackett-Burman and Response Surface Methodology. [PDF]

Int J Food Sci
Rajput K, Jassim AY, Mohammed AA, Al-Tawaha ARMS, Karnwal A, Malik T.   +5 more
europepmc   +1 more source

Physical constraints and biological regulations underlie universal osmoresponses. [PDF]

Elife
Ye Y, Wang Q, Lin J.
europepmc   +1 more source

Advanced therapeutic scaffolds of biomimetic periosteum for functional bone regeneration. [PDF]

J Nanobiotechnology
Gupta A, Kim KW, Kurian AG, Jain SK, Bhattacharya S, Singh RK, Kim HW.   +6 more
europepmc   +1 more source

Optimization of Irrigation Amount and Nitrogen Rate of Drip-Fertigated Sugar Beet Based on Sugar Yield, Nitrogen Use Efficiency, and Critical Nitrogen Dilution Curve in the Arid Southern Xinjiang of China. [PDF]

Plants (Basel)
Wang Y, Yan F, Fan J, Zhang F.
europepmc   +1 more source