Results 61 to 70 of about 2,889 (188)

PPT1 palmitoylation does not affect its subcellular localizations.

, 2016
The localization of PPT1 and PPT1 C6S was examined by co-transfection with fluorescently tagged cellular markers. A-F) Colocalization of PPT1 (A-C) and PPT1 C6S (D-F) to the lysosome marker Lamp1.
Orly Reiner (20376), Tamar Sapir (20381), Michal Segal-Salto (843030)   +2 more
core   +1 more source

Divergent effects of acute and chronic PPT1 inhibition in melanoma

Autophagy
Macroautophagy/autophagy-lysosome function promotes growth and survival of cancer cells, making them attractive targets for cancer therapy. One intriguing lysosomal target is PPT1 (palmitoyl-protein thioesterase 1). PPT1 inhibitors derived from chloroquine block autophagy, have significant antitumor activity in preclinical models and are being ...
Mary Ann S. Crissey, Amanda Versace, Monika Bhardwaj, Vaibhav Jain, Shujing Liu, Arpana Singh, Lynn A. Beer, Hsin-Yao Tang, Jessie Villanueva, Phyllis A. Gimotty, Xiaowei Xu, Ravi K. Amaravadi   +11 more
openaire   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis

Neurobiology of Disease, 2004
Infantile neuronal ceroid lipofuscinosis (INCL) is the earliest onset form of a class of inherited neurodegenerative disease called Batten disease.
Megan Griffey, Ellen Bible, Carole Vogler, Beth Levy, Praveena Gupta, Jonathan Cooper, Mark S Sands   +6 more
doaj   +1 more source

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

In a model of Batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities.

PLoS ONE, 2012
Infantile neuronal ceroid lipofuscinosis (INCL) is a fatal neurodegenerative disorder caused by a deficiency of palmitoyl-protein thioesterase-1 (PPT1). We have previously shown that children with INCL have increased risk of hypothermia during anesthesia
Alfia Khaibullina, Nicholas Kenyon, Virginia Guptill, Martha M Quezado, Li Wang, Deloris Koziol, Robert Wesley, Pablo R Moya, Zhongjian Zhang, Arjun Saha, Anil B Mukherjee, Zenaide M N Quezado   +11 more
doaj   +1 more source

Lysosomal PPT1‐insufficiency is a common pathogenic link between INCL and JNCL

The FASEB Journal, 2020
Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, constitute a group of the most common inherited childhood neurodegenerative lysosomal storage disorders (LSDs). Even though mutations in >13 different genes cause various NCLs, at the cellular level, all the NCLs ...
Abhilash Puthuvelvippel Appu, Maria Bagh, Tamal Sadhukhan, Avisek Mondal, Anil B. Mukherjee   +4 more
openaire   +1 more source

Climate Driven Water Table Changes and Their Influence on Liquefaction Response of Integral Bridges

Earthquake Engineering &Structural Dynamics, Volume 55, Issue 13, Page 3285-3301, 25 October 2026.
ABSTRACT Integral abutment bridges (IABs) eliminate bearings and joints but transfer seismic demand directly into the surrounding soil, making their response highly sensitive to groundwater conditions and soil–structure interaction. This study presents a 60 g centrifuge testing programme on single‐span IABs designed to isolate the influence of water ...
Yazan B. Asia, Gopal S. P. Madabhushi
wiley   +1 more source

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease

Biology Open, 2014
Wolfram syndrome (WFS) is a progressive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. WFS1 and WFS2 are caused by recessive mutations in the genes Wolfram Syndrome 1 (WFS1) and CDGSH iron ...
Melanie A. Jones, Sami Amr, Aerial Ferebee, Phung Huynh, Jill A. Rosenfeld, Michael F. Miles, Andrew G. Davies, Christopher A. Korey, John M. Warrick, Rita Shiang, Sarah H. Elsea, Santhosh Girirajan, Mike Grotewiel   +12 more
doaj   +1 more source

Neurodivergent pupils' school distress and attendance difficulties: Staff insights and experiences

Journal of Research in Special Educational Needs, Volume 26, Issue 4, October 2026.
Abstract Increasing numbers of children and young people (CYP) are experiencing attendance difficulties in the UK. A crucial underpinning reason for the increase is school distress, where CYP experience such high levels of distress and anxiety that they cannot attend.
Chloe Fielding, Mary Hanley, Deborah M. Riby   +2 more
wiley   +1 more source