Results 81 to 90 of about 5,298 (208)

Signaling Regulation of FAM134‐Dependent ER‐Phagy in Cells

Journal of Cellular Physiology, Volume 240, Issue 1, January 2025.
ABSTRACT The endoplasmic reticulum (ER) is a pivotal organelle responsible for protein and lipid synthesis, calcium homeostasis, and protein quality control within eukaryotic cells. To maintain cellular health, damaged or excess portions of the ER must be selectively degraded via a process known as selective autophagy, or ER‐phagy.
Alessandro Palma, Alessio Reggio
wiley   +1 more source

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. [PDF]

, 2013
To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this ...
Blake, J, Ernst, D, Hornemann, T, Houlden, H, Laurà, M, Liu, YT, Murphy, SM, Polke, J, Reilly, MM, Wei, Y, Winer, J   +10 more
core   +1 more source

Human genetic defects of sphingolipid synthesis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Sphingolipids are ubiquitous lipids, present in the membranes of all cell types, the stratum corneum and the circulating lipoproteins. Autosomal recessive as well as dominant diseases due to disturbed sphingolipid biosynthesis have been identified, including defects in the synthesis of ceramides, sphingomyelins and glycosphingolipids.
Patricia Dubot, Frédérique Sabourdy, Thierry Levade   +2 more
wiley   +1 more source

Uncoupling neurotrophic function from nociception of nerve growth factor: what can be learned from a rare human disease?

Neural Regeneration Research, 2019
Nerve growth factor (NGF) is a powerful trophic factor that provides essential support for the survival and differentiation of sympathetic and sensory neurons during development.
Kijung Sung, Wanlin Yang, Chengbiao Wu
doaj   +1 more source

Spacelike Ricci Inheritance Vectors in a Model of String Cloud and String Fluid Stress Tensor

, 2005
We study the consequences of the existence of spacelike Ricci inheritance vectors (SpRIVs) parallel to $x^a$ for model of string cloud and string fluid stress tensor in the context of general relativity.
Carot J, Collinson C D, Duggal K L, Greenberg P S, H sn  Baysal, Ihsan Yilmaz, Katzin G H, Kibble T W S, Letelier P S, Zeldovich Ya B   +9 more
core   +1 more source

Den osynlige patienten [PDF]

, 2013
Inledning: Patientperspektivet som försvann. Den 1 januari 2011 får Sverige en ny patientsäkerhetslag. Varje år skadas 105 000 personer i den svenska vården. 3000 personer dör som följd av vårdskadan
Josborg, Louise
core  

Book Review: Refiguring women, colonialism, and modernity in Burma [PDF]

, 2013
Review of Refiguring women, colonialism, and modernity in Burma by Chie ...
Dassah, Maurice Oscar
core   +1 more source

Bianchi Type III String Cosmological Models with Time Dependent Bulk Viscosity

, 2007
Bianchi type III string cosmological models with bulk viscous fluid for massive string are investigated. To get the determinate model of the universe, we have assumed that the coefficient of bulk viscosity ($\xi$) is inversely proportional to the ...
Anirudh Pradhan, Bali R, Kibble T W B, Landau L D, Maharaj S D, Raj Bali, Selijak U, Selijak U, Thorne K S, Wang X X, Wang X X, Wang X X, Wang X X, Yadav M K, Yadav M K, Zel'dovich Ya B, Zel'dovich Ya B, Zel'dovich Ya B   +17 more
core   +2 more sources

How Do I Diagnose Multiple System Atrophy—A Videolibrary on Clinical and Imaging Features

Movement Disorders Clinical Practice, Volume 12, Issue 10, Page 1690-1693, October 2025.
Victoria Sidoroff, Luca Baldelli, Nathaniel Bendahan, Giovanna Calandra‐Buonaura, Nicole Campese, Gustavo Da Prat, Margherita Fabbri, Alessandra Fanciulli, Joaquim J. Ferreira, Florin Gandor, Emilia Gatto, Gabriela S. Gilmour, Sabrina Katzdobler, Horacio Kaufmann, Vladimir Kostic, Florian Krismer, Vikram Khurana, Anthony Lang, Johannes Levin, Patricio Millar Vernetti, Maria Teresa Pellecchia, Igor Petrovic, Werner Poewe, Cecilia Raccagni, Rita Moiron Simões, Wolfgang Singer, Michael Strupp, Thilo van Eimeren, Maria Stamelou, Günter Höglinger, Gregor Wenning, Iva Stankovic, on behalf of the MDS MSA Study group   +32 more
wiley   +1 more source

Medical management of hereditary optic neuropathies. [PDF]

, 2014
Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA).
Barboni, Piero, Carbonelli, Michele, Carelli, Valerio, La Morgia, Chiara, Sadun, Alfredo Arrigo   +4 more
core   +1 more source