Results 51 to 60 of about 1,111 (177)

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

Orphanet Journal of Rare Diseases, 2021
Background Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and ...
Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel, Florian S. Eichler   +9 more
doaj   +1 more source

Acidic Nanoparticles Prevent HIV Pre‐Exposure Prophylaxis (PrEP)‐Induced Oligodendrocyte Impairments by Restoring Lysosomal pH in Adolescent Models

Glia, Volume 73, Issue 10, Page 1967-1988, October 2025.
Main Points Pre‐exposure prophylaxis (PrEP) inhibits oligodendrocyte differentiation PrEP inhibits oligodendrocyte differentiation through lysosome deacidification Acidic nanoparticles prevent PrEP‐induced inhibition of oligodendrocyte differentiation ABSTRACT A disproportionate percentage of adolescents are diagnosed with human immunodeficiency virus (
Caela C. Long, Lindsay K. Festa, Melanie Cruz‐Berrios, Teshawn D. Johnson, Claire H. Mitchell, Kelly L. Jordan‐Sciutto, Judith B. Grinspan   +6 more
wiley   +1 more source

Developmental and regional distribution of aspartoacylase in rat brain tissue [PDF]

Journal of Neurochemistry, 2001
The function of N‐acetyl‐aspartate (NAA), a predominant molecule in the brain, has not yet been determined. However, NAA is commonly used as a putative marker of viable neurones. To investigate the possible function of NAA, we determined the anatomical, developmental and cellular distribution of aspartoacylase, which catalyses the hydrolysis of NAA ...
K K, Bhakoo, T J, Craig, P, Styles
openaire   +2 more sources

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids

Clinical and Translational Medicine, Volume 15, Issue 9, September 2025.
Urinary organic acid profiles in NICCD show enrichment in energy and amino acid pathways. The random forest model differentiates NICCD from non‐specific metabolic abnormalities, both with elevated 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid, which may cause misdiagnosis. Model explanation and web application help physicians make clinical
Peiyao Wang, Peichun Chen, Xinjie Yang, Ziyan Cen, Yu Zhang, Qimin He, Benqing Wu, Xinwen Huang   +7 more
wiley   +1 more source

Bovine Endometrium Drives and Responds to Divergence of In Vitro Produced Conceptus Biochemistry

The FASEB Journal, Volume 39, Issue 16, 31 August 2025.
IVD versus IVP bovine conceptus‐endometrial microenvironment. Compared to the in vivo derived (IVD) bovine conceptus, the in vitro produced (IVP) conceptus has a reduced number of transcribed genes, mRNA abundance for genes transcribed and increased expression of inflammatory mediators in response to the endometrium.
Katheryn D. Peterson, Mary A. Oliver, Trevor F. Freeman, Shankar P. Poudel, Susanta K. Behura, David Kakhniashvili, Daniel L. Johnson, Rebecca R. Payton, Tulio M. Prado, Lew G. Strickland, J. Lannett Edwards, Elizabeth A. Shepherd, Jonathan E. Beever, Thomas E. Spencer, Daniel J. Mathew   +14 more
wiley   +1 more source

Regulación de la utilización del aspartato por los astrocitos durante la prelactancia

Universitas Scientiarum, 2009
Regulation of the use of aspartate by the astrocytes during the presuckling period. During the perinatal period the concentration ofN-acetyl-L-aspartate (NAA) produced by neurons increases.
Cecilia Espíndola, Ludis Morales, María Juliana Salamanca Ortiz, Jairo Alfonso Tovar-Franco   +3 more
doaj  

Valdiazen Derivatives for Chemoproteomic Studies in Burkholderia cenocepacia H111

ChemBioChem, Volume 26, Issue 11, June 3, 2025.
Valdiazen is a quorum‐sensing signal isolated from B. c. H111. Using diazeniumdiolate chemical probes, several valdiazen‐binding proteins are identified, many of which are involved in structural and metabolic processes. This study offers valuable chemical tools and advances our understanding of the interactome associated with diazeniumdiolate signaling
Jiajun Ren, Anugraha Mathew, María Rodríguez‐García, Colin C. Regli, Olivier Blacque, Bernhard Spingler, Simon Sieber, Leo Eberl, Karl Gademann   +8 more
wiley   +1 more source

Aspartoacylase Deficiency in the White Matter of Human Immunodeficiency Virus Encephalitis: Novel Mechanism in Axonal Damage

, 2011
Aspartoacylase/aminoacylase II (ASPA/ACY II) is mainly synthesized in oligodendrocytes to contribute in myelin synthesis. Although axonal damage is seen in the brain with human immunodeficiency virus encephalitis (HIVE), ASPA contribution in the ...
Sankar Surendran, Srinivasagam Rajasankar   +1 more
core   +1 more source

Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene

Stem Cell Research
Canavan disease (CD, OMIM# 271900) is an autosomal recessive neurodegenerative disorder caused by homozygous or compound heterozygous mutations in ASPA gene, which result in catalytic deficiency of the aspartoacylase enzyme and the accumulation of N ...
Ning Liu, Yongsheng Ge, Yanan Yang, Fen Zhao, Yuqiang Lv, Zilong Li, Rui Dong, Yi Liu, Zhongtao Gai   +8 more
doaj   +1 more source

Cell‐Based Therapy for Canavan Disease Using Human iPSC‐Derived NPCs and OPCs

Advanced Science, 2020
Canavan disease (CD) is a fatal leukodystrophy caused by mutation of the aspartoacylase (ASPA) gene, which leads to deficiency in ASPA activity, accumulation of the substrate N‐acetyl‐L‐aspartate (NAA), demyelination, and spongy degeneration of the brain.
Lizhao Feng, Jianfei Chao, E Tian, Li Li, Peng Ye, Mi Zhang, Xianwei Chen, Qi Cui, Guihua Sun, Tao Zhou, Gerardo Felix, Yue Qin, Wendong Li, Edward David Meza, Jeremy Klein, Lucy Ghoda, Weidong Hu, Yonglun Luo, Wei Dang, David Hsu, Joseph Gold, Steven A. Goldman, Reuben Matalon, Yanhong Shi   +23 more
doaj   +1 more source