Rab proteins: the key regulators of intracellular vesicle transport

T Bhuin, JK Roy - Experimental cell research, 2014 - Elsevier
Vesicular/membrane trafficking essentially regulates the compartmentalization and
abundance of proteins within the cells and contributes in many signalling pathways. This …

Chemical composition of selected insect meals and their effect on apparent total tract digestibility, fecal metabolites, and microbiota of adult cats fed insect-based …

LM Reilly, Y Hu, PC Von Schaumburg… - Journal of animal …, 2022 - academic.oup.com
Insect meals are novel and potentially sustainable protein sources. The objectives of this
study were to determine the chemical composition and standardized amino acid digestibility …

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

P Mohassel, S Donkervoort, MA Lone, M Nalls… - Nature medicine, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease of the
lower and upper motor neurons with sporadic or hereditary occurrence. Age of onset, pattern …

Human sensorimotor organoids derived from healthy and amyotrophic lateral sclerosis stem cells form neuromuscular junctions

JD Pereira, DM DuBreuil, AC Devlin, A Held… - Nature …, 2021 - nature.com
Human induced pluripotent stem cells (iPSC) hold promise for modeling diseases in
individual human genetic backgrounds and thus for developing precision medicine. Here …

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

MA Lone, MJ Aaltonen, A Zidell… - The Journal of …, 2022 - Am Soc Clin Investig
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects
motor neurons. Mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT), which …

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids*♦

A Penno, MM Reilly, H Houlden, M Laurá… - Journal of biological …, 2010 - ASBMB
HSAN1 is an inherited neuropathy found to be associated with several missense mutations
in the SPTLC1 subunit of serine palmitoyltransferase (SPT). SPT catalyzes the condensation …

Genetic pain loss disorders

A Lischka, P Lassuthova, A Çakar, CJ Record… - Nature Reviews …, 2022 - nature.com
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …

The WNKs: atypical protein kinases with pleiotropic actions

JA McCormick, DH Ellison - Physiological reviews, 2011 - journals.physiology.org
WNKs are serine/threonine kinases that comprise a unique branch of the kinome. They are
so-named owing to the unusual placement of an essential catalytic lysine. WNKs have now …

Sphingolipid biosynthesis in man and microbes

PJ Harrison, TM Dunn, DJ Campopiano - Natural product reports, 2018 - pubs.rsc.org
A new review covering up to 2018 Sphingolipids are essential molecules that, despite their
long history, are still stimulating interest today. The reasons for this are that, as well as …

Emerging therapies for Charcot-Marie-Tooth inherited neuropathies

M Stavrou, I Sargiannidou, E Georgiou… - International Journal of …, 2021 - mdpi.com
Inherited neuropathies known as Charcot-Marie-Tooth (CMT) disease are genetically
heterogeneous disorders affecting the peripheral nerves, causing significant and slowly …