Results 201 to 210 of about 147,751 (260)

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

V-ATPase Disassembly at the Yeast Lysosome-Like Vacuole Is a Phenotypic Driver of Lysosome Dysfunction in Replicative Aging. [PDF]

Aging Cell
Hashmi F, Kane PM.
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Oxr1 and Ncoa7 regulate V-ATPase to achieve optimal pH for glycosylation within the Golgi apparatus and trans-Golgi network. [PDF]

Proc Natl Acad Sci U S A
Yoshimura SI, Sobajima T, Kunii M, Harada A.   +3 more
europepmc   +1 more source

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley   +1 more source

A gain-of-function mutation in ATP6V0A4 drives primary distal renal tubular alkalosis with enhanced V-ATPase activity. [PDF]

J Clin Invest
Peng SQ, Wu QQ, Wang WY, Zhang YL, Zhou RN, Liao J, Wei JX, Yang Y, Shi W, Yang JL, Wang XX, Wei ZY, Sun JX, Huang L, Fan H, Cai H, Wang CK, Li XH, Li TS, Liu BC, Zhang XL, Wang B.   +21 more
europepmc   +1 more source

Hsp90 Inhibition on the Western Blot: N‐Terminal Versus C‐Terminal Inhibitors in Breast Cancer

Medicinal Research Reviews, EarlyView.
ABSTRACT Heat shock protein 90 (Hsp90) is an established and clinically validated anticancer target. By regulating the folding and maturation of diverse client proteins, it is indirectly involved in carcinogenesis. Key breast cancer oncogenic drivers, including estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2, are ...
Jaka Dernovšek, Jernej Cingl, Urša Pečar Fonović, Tihomir Tomašič   +3 more
wiley   +1 more source

Senotherapeutics for Knee Osteoarthritis

Medicinal Research Reviews, EarlyView.
ABSTRACT Osteoarthritis (OA) is a chronic disease that imposes a significant economic burden and deteriorates quality of life. Nevertheless, current therapeutic options for OA are limited to symptomatic remedies. As such, there is a high interest in novel methods for treating or preventing OA.
Ezgi Duman, Girish Pattappa, Patrick Pann, Stephan Reppenhagen, Maximilian Rudert, Peter Angele, Denitsa Docheva   +6 more
wiley   +1 more source

Deacidification of the Endolysosomal System by the Vesicular Proton Pump V-ATPase Inhibitor Bafilomycin A1 Affects EGF Receptor Endocytosis Differently in Endometrial MSC and HeLa Cells. [PDF]

Int J Mol Sci
Salova AV, Belyaeva TN, Litvinov IK, Kharchenko MV, Kornilova ES.   +4 more
europepmc   +1 more source

Beyond Bioenergetics: Moonlighting Functions of F1FO‐ATPase From ATP Synthesis to an ATP‐Wasting Death Switch

Medicinal Research Reviews, EarlyView.
ABSTRACT Mitochondrial F1FO‐ATPase is classically viewed as the “splendid” rotary nanomachine that sustains life by converting the proton‐motive force (pmf) into ATP. Yet this same complex can adopt a second, context‐dependent function that links bioenergetics to cell fate.
Salvatore Nesci
wiley   +1 more source