Results 41 to 50 of about 1,001 (167)

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

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

효소 활성 측정과 생물 영상화를 위한 반응기반 탐침의 개발 [PDF]

, 2017
학위논문 (박사)-- 서울대학교 대학원 자연과학대학 화학부, 2017. 8. 홍종인.The detection of enzyme activity provides many clues to the nature of living systems and the interaction between biomolecules.
윤혜영
core  

Transition-State Interactions in a Promiscuous Enzyme: Sulfate and Phosphate Monoester Hydrolysis by Pseudomonas aeruginosa Arylsulfatase. [PDF]

, 2019
Pseudomonas aeruginosa arylsulfatase (PAS) hydrolyzes sulfate and, promiscuously, phosphate monoesters. Enzyme-catalyzed sulfate transfer is crucial to a wide variety of biological processes, but detailed studies of the mechanistic contributions to its ...
Berry, Ryan, Boonyuen, Usa, Golicnik, Marko, Hengge, Alvan C, Hollfelder, Florian, Mohamed, Mark F, van Loo, Bert   +6 more
core   +3 more sources

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

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals [PDF]

Brazilian Journal of Medical and Biological Research, 1999
Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects.
Pedron, C.G., Gaspar, P.A., Giugliani, R., Pereira, M.L.S.   +3 more
openaire   +7 more sources

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

Alterations in Sulfolipid Metabolism in Malathion-Stressed Rats [PDF]

, 1972
The effects of malathion stress on, inorganic sulfur metabolism in female rats were investigated by extracting macromolecules containing ester sulfate from cellular lipoprotein.
Disney, Gail W.
core   +1 more source

Soil health responses to cover crop functional group and richness in semiarid Montana

Soil Science Society of America Journal, Volume 89, Issue 2, March/April 2025.
Abstract Despite a plethora of studies on the effects of cover crops on soil health, few published papers have reported the effects of plant functional group and richness on soil health, especially in semiarid regions. We initiated a no‐till study in semiarid Montana in 2012 that consisted of Pea (Pisum sativum L.), four two‐spp single functional ...
Clain A. Jones, Catherine A. Zabinski, Perry R. Miller, Kristen D'Agati, Susan M. Tallman, Megan L. Housman   +5 more
wiley   +1 more source

Proteome‐Wide Association Study for Finding Druggable Targets in Progression and Onset of Parkinson's Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 2, February 2025.
We identified and validated 25 causal protein targets linked to Parkinson's disease (PD) onset and progression using proteomic and genetic analyses. Using plasma and brain large‐scale pQTL datasets, we conducted proteome‐wide association studies (PWAS) and Mendelian randomization (MR) to assess causality.
Chenhao Gao, Haobin Zhou, Weixuan Liang, Zhuofeng Wen, Wanzhe Liao, Zhixin Xie, Cailing Liao, Limin He, Jingzhang Sun, Zhilin Chen, Duopin Li, Naijun Yuan, Chuiguo Huang, Jiewen Zhang   +13 more
wiley   +1 more source