Results 81 to 90 of about 15,724 (296)

Dysfunction of Platelet-derived Growth Factor Receptor α (PDGFRα) Represses the Production of Oligodendrocytes from Arylsulfatase A-deficient Multipotential Neural Precursor Cells*

Journal of Biological Chemistry, 2015
Background: PDGFRα is a key signaling component in oligodendrogenesis. Results: Multipotential Neural precursors (NPs) deficient in arylsulfatase A (ASA) show a higher ratio of long versus short fatty acid sulfatides, reduction in PDGFRα, decreased AKT ...
Katarzyna C. Pituch, A. L. Moyano, Aurora Lopez-Rosas, Felecia M Marottoli, Guannan Li, Chenqi Hu, R. V. van Breemen, J. Månsson, M. Givogri   +8 more
semanticscholar   +1 more source

Molecular Basis of Metachromatic Leukodystrophies

Pediatric Neurology Briefs, 1991
Arylsulfatase A alleles were analyzed in 68 patients with metachromatic leukodystrophy in the Department of Biochemistry II, Georg-August-Universitat Gottingen, Gosslerstr, Gottingen, Germany.
J Gordon Millichap
doaj   +1 more source

Immune Dysregulation in a Child With SOD1‐Related Neurological Disease

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Spastic tetraplegia and axial hypotonia (STAHP) associated with biallelic SOD1 deficiency is a recently described neurological disorder affecting children. Five studies have described a total of nine cases thus far, all characterized by the onset of progressive spastic tetraplegia beginning before 2 years of age. All but two of these cases are
Rozlyn Claire Thomas Boutin, Farzaneh Shobeirian, Shelin Adam, Anna Lehman, Ramona Salvarinova, Jan M Friedman   +5 more
wiley   +1 more source

Arylsulfatase activity in marine polychaetes [PDF]

, 1984
Marine polychaetes, collected from the Vellar Estuary exhibited arylsulfatase activity. Lumbriconeries sp. Polydora sp. Monojis sp. and Heteromastus sp. were selected for this study. Of these, Heteromastus sp. showed maximum enzymatic activity and it has
Dhevendaran, K.
core  

Metachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects [PDF]

, 2012
Non
Abdelhedi Miled, Ilhem Barboura, Irène Maire, Salima Ferchichi   +3 more
core   +1 more source

Expanded carrier screening for inherited genetic disease using exome and genome sequencing

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X‐linked (XL) disorders without the constraints of a predetermined ...
N. Belnap, K. Ramsey, A. Abraham, A. Ryan, S. Rangasamy, A. Bonfitto, M. Naymik, M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody, S. Szelinger, V. Narayanan   +13 more
wiley   +1 more source

Arylsulfatase G, a Novel Lysosomal Sulfatase [PDF]

Journal of Biological Chemistry, 2008
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 sulfolipids. By modifying the sulfation state of their substrates, sulfatases play a key role in the control of physiological processes, including cellular degradation, cell ...
Frese, Marc-Andre, Schulz, Stefanie, Dierks, Thomas   +2 more
openaire   +5 more sources

Resistance of arylsulfatase to contamination of soil by heavy metals

, 2016
Contamination of soils by heavy metals is a severe problem because of disturbances caused in the functioning of the soil and the whole ecosystem. Therefore, the aim of our research was to determine the influence of contamination of soil by zinc, copper ...
J. Wyszkowska, K. Wieczorek, J. Kucharski   +2 more
semanticscholar   +1 more source

Semantic variant primary progressive aphasia with ANXA11 p.D40G

Alzheimer's &Dementia, Volume 21, Issue 3, March 2025.
Abstract INTRODUCTION Pathogenic variants of annexin A11 (ANXA11) have been identified in patients with amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). We explored ANXA11 pathogenic variants in a Korean FTD cohort to investigate the prevalence and the role of ANXA11 variation in FTD.
Sun Min Lee, Soo Jin Yoon, Kyung Won Park, Ahro Kim, Hee Jin Kim, Na‐Yeon Jung, Hyemin Jang, William W. Seeley, Young‐Eun Kim, So Young Moon, Eun‐Joo Kim, the Longitudinal study of Early onset dementia And Family members (LEAF) investigators   +11 more
wiley   +1 more source

Cloning and Expression of Human Arylsulfatase A

Journal of Biological Chemistry, 1989
A full length cDNA for human arylsulfatase A was cloned and sequenced. The predicted amino acid sequence comprises 507 residues. A putative signal peptide of 18 residues is followed by the NH2-terminal sequence of placental arylsulfatase A. One of the arylsulfatase A peptides ends 3 residues ahead of the predicted COOH terminus.
Abdul Waheed, H E Meyer, Regina Pohlmann, J. S. O'brien, Volkmar Gieselmann, K von Figura, J. Kreysing, Bernhard Schmidt, C. Stein   +8 more
openaire   +3 more sources