Variants in saposin D domain of prosaposin gene linked to Parkinson's disease
Y Oji, T Hatano, SI Ueno, M Funayama, K Ishikawa… - Brain, 2020 - academic.oup.com
Recently, the genetic variability in lysosomal storage disorders has been implicated in the
pathogenesis of Parkinson's disease. Here, we found that variants in prosaposin (PSAP), a …
pathogenesis of Parkinson's disease. Here, we found that variants in prosaposin (PSAP), a …
[HTML][HTML] The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin
S Lefrancois, J Zeng, AJ Hassan, M Canuel… - The EMBO …, 2003 - embopress.org
Most soluble lysosomal proteins bind the mannose 6‐phosphate receptor (M6P‐R) to be
sorted to the lysosomes. However, the lysosomes of I‐cell disease (ICD) patients, a …
sorted to the lysosomes. However, the lysosomes of I‐cell disease (ICD) patients, a …
Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells
V Seyrantepe, K Landry, S Trudel, JA Hassan… - Journal of Biological …, 2004 - ASBMB
Three different mammalian sialidases have been described as follows: lysosomal (Neu1,
gene NEU1), cytoplasmic (Neu2, gene NEU2), and plasma membrane (Neu3, gene NEU3) …
gene NEU1), cytoplasmic (Neu2, gene NEU2), and plasma membrane (Neu3, gene NEU3) …
Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of …
J Matsuda, M Kido, K Tadano-Aritomi… - Human molecular …, 2004 - academic.oup.com
The sphingolipid activator proteins (saposins A, B, C and D) are small homologous
glycoproteins that are encoded by a single gene in tandem within a large precursor protein …
glycoproteins that are encoded by a single gene in tandem within a large precursor protein …
Single‐cell RNA‐sequencing analysis reveals enhanced non‐canonical neurotrophic factor signaling in the subacute phase of traumatic brain injury
X Qiu, Y Guo, MF Liu, B Zhang, J Li… - CNS Neuroscience & …, 2023 - Wiley Online Library
Background Traumatic brain injury (TBI) is a leading cause of long‐term disability in young
adults and induces complex neuropathological processes. Cellular autonomous and …
adults and induces complex neuropathological processes. Cellular autonomous and …
Unraveling Desmin's Head Domain Structure and Function
D Vlachakis, K Tsilafakis, I Kostavasili, S Kossida… - Cells, 2024 - mdpi.com
Understanding the structure and function of intermediate filaments (IFs) is necessary in order
to explain why more than 70 related IF genes have evolved in vertebrates while maintaining …
to explain why more than 70 related IF genes have evolved in vertebrates while maintaining …
Purified recombinant human prosaposin forms oligomers that bind procathepsin D and affect its autoactivation
MM Gopalakrishnan, HW Grosch… - Biochemical …, 2004 - portlandpress.com
Before delivery to endosomes, portions of proCD (procathepsin D) and proSAP (prosaposin)
are assembled into complexes. We demonstrate that such complexes are also present in …
are assembled into complexes. We demonstrate that such complexes are also present in …
Arylsulfatase G, a novel lysosomal sulfatase
MA Frese, S Schulz, T Dierks - Journal of Biological Chemistry, 2008 - ASBMB
The sulfatases constitute a conserved family of enzymes that specifically hydrolyze sulfate
esters in a wide variety of substrates such as glycosaminoglycans, steroid sulfates, or …
esters in a wide variety of substrates such as glycosaminoglycans, steroid sulfates, or …
Prosaposin deficiency-a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient
M Elleder, M Jeřábková, A Befekadu… - …, 2005 - thieme-connect.com
An infant presented with multifocal myoclonus and cyanotic hypoxemia immediately after
birth, and severe feeding problems, a protein-losing enteropathy, massive ascites and grand …
birth, and severe feeding problems, a protein-losing enteropathy, massive ascites and grand …
The trafficking of prosaposin (SGP‐1) and GM2AP to the lysosomes of TM4 sertoli cells is mediated by sortilin and monomeric adaptor proteins
AJ Hassan, J Zeng, X Ni… - Molecular Reproduction …, 2004 - Wiley Online Library
Abstract Prosaposin (SGP‐1) and GM2 activator protein (GM2AP) are soluble sphingolipid
activator proteins (SAPs) that are targeted to the lysosomal compartment of Sertoli cells to …
activator proteins (SAPs) that are targeted to the lysosomal compartment of Sertoli cells to …