Results 211 to 220 of about 33,953 (257)

Aneuploidy-induced proteostasis disruption impairs mitochondrial functions and mediates aggregation of mitochondrial precursor proteins through SQSTM1/p62. [PDF]

Nat Commun
Amponsah PS, Bökenkamp JE, Kurpa O, Lenhard S, Myronova A, Velazquez DOV, Hirschelmann C, Behrends C, Herrmann JM, Räschle M, Storchová Z.   +10 more
europepmc   +1 more source

Proteomics Analysis of the TDP-43 Interactome in Cellular Models of ALS Pathogenesis. [PDF]

J Neurochem
Cheng F, Chapman T, Venturato J, Davidson JM, Polido SA, Rosa-Fernandes L, San Gil R, Suddull HJ, Zhang S, Macaslam CY, Szwaja P, Chung R, Walker AK, Rayner SL, Morsch M, Lee A.   +15 more
europepmc   +1 more source

A defined tubby domain β-barrel surface region of TULP3 mediates ciliary trafficking of diverse cargoes. [PDF]

Mol Biol Cell
Palicharla VR, Badgandi HB, Hwang SH, Legué E, Liem KF, Mukhopadhyay S.   +5 more
europepmc   +1 more source

Dystonia caused by ANO3 variants is due to attenuated Ca²⁺ influx by ORAI1. [PDF]

BMC Med
Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroğlu E, Ortigoza-Escobar JD, Schreiber R, Kunzelmann K.   +9 more
europepmc   +1 more source

Pathogenic MCT8V235L creates a steric clash that is alleviated by a compensating mutation of MCT8F285A. [PDF]

Eur Thyroid J
Sonntag N, Schreiner F, Schweizer U, Braun D.   +3 more
europepmc   +1 more source

A novel acridine flow cytometry marker to track post-transfusion amustaline/glutathione pathogen-reduced red blood cell survival in sickle cell disease patients. [PDF]

Transfusion
Benjamin RJ, Pitman JP, Karim C, Huang S, Erickson A, Corash L, Mufti N, Roback JD, Zerra PE, Fasano RM, Yee MEM.   +10 more
europepmc   +1 more source

Inefficient maturation of disease-linked mutant forms of the KCC2 potassium-chloride cotransporter correlates with predicted pathogenicity. [PDF]

J Biol Chem
Kok M, Singh I, Aizenman E, Brodsky JL.
europepmc   +1 more source

Synaptic signatures and disease vulnerabilities of layer 5 pyramidal neurons. [PDF]

Nat Commun
Marcassa G, Dascenco D, Lorente-Echeverría B, Daaboul D, Vandensteen J, Leysen E, Baltussen L, Howden AJM, de Wit J.   +8 more
europepmc   +1 more source

Membrane association prevents premature degradation and mitigates inefficient biogenesis of suboptimal membrane proteins

Diwo C, Alenquer M, Adrain C, Amorim MJ.
europepmc   +1 more source