Results 251 to 260 of about 1,639,954 (343)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Orthogonal validation of PROTAC mediated degradation of the integral membrane proteins EGFR and c-MET. [PDF]

Sci Rep
Ruffilli C, Röth S, Zelcer N, Moreau K.
europepmc   +1 more source

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury. Despite a diverse array of genetic drivers, many NMDs share similar patterns of exercise intolerance and higher concentrations of muscle injury proteins ...
Mads G. Stemmerik, Benjamin Barthel, Nanna R. Andersen, Sofie V. Skriver, Alan J. Russell, John Vissing   +5 more
wiley   +1 more source

Discovery of Therapeutic Antibodies Targeting Complex Multi-Spanning Membrane Proteins. [PDF]

BioDrugs
Stephens AD, Wilkinson T.
europepmc   +1 more source

A Coat Protein of the Bacteriophage M13 Virion Participates in Membrane-Oriented Synthesis of DNA

, 1973
S. Michal Jazwinski, Roberto Di Marco, Arthur Kornberg   +2 more
openalex   +1 more source

Epitope Mapping of Anti‐Neurofascin 155 Antibody in a Large Cohort of Autoimmune Nodopathy Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune nodopathy (AN), a newly recognized disease entity, is an immune‐mediated polyneuropathy involving autoantibodies against cell adhesion molecules located in nodes of Ranvier and paranodal regions, such as neurofascin 186 (NF186) and neurofascin 155 (NF155). The present study aimed to identify the epitopes for autoantibodies
Amina A. Abdelhadi, Hidenori Ogata, Xu Zhang, Takumi Tashiro, Ryo Yamasaki, Jun‐ichi Kira, Noriko Isobe   +6 more
wiley   +1 more source

Nanoelectrospray based synthesis of large, transportable membranes with integrated membrane proteins. [PDF]

Sci Rep
Wilm M.
europepmc   +1 more source

Artificial Receptor in Synthetic Cells Performs Transmembrane Activation of Proteolysis

Advanced Biology, EarlyView.
Transmembrane signaling is the hallmark of living cells and is among the highest challenges for the design of synthetic cells. Herein, an artificial receptor based on the chemistry of self‐immolative linkers is used to communicate information across the lipid bilayer, for transmembrane activation of enzymatic activity. Abstract The design of artificial,
Ane Bretschneider Søgaard, Kaja Borup Løvschall, Mireia Casanovas Montasell, Clara Bakkegaard Cramer, Pere Monge Marcet, Andreas Bøtker Pedersen, Josefine Hammer Jakobsen, Alexander N. Zelikin   +7 more
wiley   +1 more source

How to target membrane proteins for degradation: Bringing GPCRs into the TPD fold. [PDF]

J Biol Chem
Korona B, Itzhaki LS.
europepmc   +1 more source

Ca2+ and cyclic AMP regulate phosphorylation of same two membrane-associated proteins specific to nerve tissue.

, 1979
Werner Sieghart, J Forn, Paul Greengard
openalex   +1 more source