Lysosomal storage diseases

CR Ferreira, WA Gahl - Translational science of rare diseases, 2017 - content.iospress.com
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A
genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the …

Novel CDNF/MANF family of neurotrophic factors

P Lindholm, M Saarma - Developmental neurobiology, 2010 - Wiley Online Library
Current therapeutic interventions for neurodegenerative diseases alleviate only disease
symptoms, while treatments that could stop or reverse actual degenerative processes are …

The epidemiology of diabetic neuropathy

JE Shaw, PZ Zimmet - Diabetes Review, 1999 - research.monash.edu
The understanding of the epidemiology of diabetic peripheral neuropathy has been made
difficult by methodological issues relating to many of the published studies. Inconsistency in …

GPR37 and GPR37L1 are receptors for the neuroprotective and glioprotective factors prosaptide and prosaposin

RC Meyer, MM Giddens… - Proceedings of the …, 2013 - National Acad Sciences
GPR37 (also known as Pael-R) and GPR37L1 are orphan G protein-coupled receptors that
are almost exclusively expressed in the nervous system. We screened these receptors for …

Saposin fold revealed by the NMR structure of NK-lysin.

E Liepinsh, M Andersson, JM Ruysschaert… - Nature structural …, 1997 - europepmc.org
NK-lysin is the first representative of a family of sequence related proteins--saposins,
surfactant-associated protein B, pore forming amoeba proteins, and domains of acid …

Astroglia as a cellular target for neuroprotection and treatment of neuro‐psychiatric disorders

B Liu, AG Teschemacher, S Kasparov - Glia, 2017 - Wiley Online Library
Astrocytes are key homeostatic cells of the central nervous system. They cooperate with
neurons at several levels, including ion and water homeostasis, chemical signal …

The protective role of prosaposin and its receptors in the nervous system

RC Meyer, MM Giddens, BM Coleman, RA Hall - Brain research, 2014 - Elsevier
Prosaposin (also known as SGP-1) is an intriguing multifunctional protein that plays roles
both intracellularly, as a regulator of lysosomal enzyme function, and extracellularly, as a …

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple …

N Fujita, K Suzuki, MT Vanier, B Popko… - Human molecular …, 1996 - academic.oup.com
The four established or putative sphingolipid activator proteins derive from a large precursor
protein encoded by a single gene. In addition to generating the four sphingolipid activator …

Prosaposin is a regulator of progranulin levels and oligomerization

AM Nicholson, NCA Finch, M Almeida… - Nature …, 2016 - nature.com
Abstract Progranulin (GRN) loss-of-function mutations leading to progranulin protein
(PGRN) haploinsufficiency are prevalent genetic causes of frontotemporal dementia …

2 Gaucher's disease: molecular, genetic and enzymological aspects

GA Grabowski, M Horowitz - Baillière's clinical haematology, 1997 - Elsevier
The molecular, genetic and enzymological abnormalities in Gaucher's disease have been
delineated during the past decade. Although our understanding of the primary …