المؤلفون: Balasundaram A; Laboratory of Integrative Genomics, Department of Integrative Biology, School of Bio Sciences and Technology, Vellore Institute of Technology (VIT), Vellore, Tamil Nadu, India., Ramireddy S; Laboratory of Integrative Genomics, Department of Integrative Biology, School of Bio Sciences and Technology, Vellore Institute of Technology (VIT), Vellore, Tamil Nadu, India., S UK; Laboratory of Integrative Genomics, Department of Integrative Biology, School of Bio Sciences and Technology, Vellore Institute of Technology (VIT), Vellore, Tamil Nadu, India., D TK; Faculty of Allied Health Sciences, Meenakshi Academy of Higher Education and Research, Chennai, Tamil Nadu, India., Tayubi IA; Department of Computer Science, Faculty of Computing and Information Technology, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia., Zayed H; Department of Biomedical Sciences College of Health Sciences, QU Health, Qatar University, Doha, Qatar., C GPD; Laboratory of Integrative Genomics, Department of Integrative Biology, School of Bio Sciences and Technology, Vellore Institute of Technology (VIT), Vellore, Tamil Nadu, India.

المصدر: Journal of biomolecular structure & dynamics [J Biomol Struct Dyn] 2024 May; Vol. 42 (8), pp. 4313-4324. Date of Electronic Publication: 2023 Jun 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 8404176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-0254 (Electronic) Linking ISSN: 07391102 NLM ISO Abbreviation: J Biomol Struct Dyn Subsets: MEDLINE

مواضيع طبية MeSH: Molecular Dynamics Simulation* , Mutation* , Aspartylglucosaminuria*/genetics , Aspartylglucosaminuria*/metabolism, Phosphorylation ; Humans ; Aspartylglucosylaminase/genetics ; Aspartylglucosylaminase/metabolism ; Aspartylglucosylaminase/chemistry ; Protein Conformation ; Hydrogen Bonding ; Structure-Activity Relationship

المؤلفون: Banning A; Institute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, DE-35390 Giessen, Germany., Laine M; Department of Child Neurology, Helsinki University Hospital and Helsinki University, P.O. Box 900, FI-01400 Vantaa, Finland., Tikkanen R; Institute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, DE-35390 Giessen, Germany.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Mar 16; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Aspartylglucosylaminase*/genetics , Aspartylglucosaminuria*/genetics , Lysosomal Storage Diseases*/genetics, Humans ; Lysosomes

المؤلفون: Gao A; Department of Endocrinology and Metabolic Diseases, Guiyang Maternal and Child Health Care Hospital, Guiyang Children's Hospital, Guiyang, Guizhou 550003, China. 48282511@qq.com., Deng W, Yang Y, Liu Y, Wen J

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Jan 10; Vol. 40 (1), pp. 87-91.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Aspartylglucosaminuria*, Female ; Pregnancy ; Humans ; Child ; DNA Copy Number Variations ; Genetic Counseling ; Genomics ; Heterozygote ; Mutation

المؤلفون: Roine U; From the Department of Radiology (U.R., A.M.T., T.A., T.R.), HUS Medical Imaging Center.; Department of Pediatric Neurology (U.R.), Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Tokola AM; From the Department of Radiology (U.R., A.M.T., T.A., T.R.), HUS Medical Imaging Center., Autti T; From the Department of Radiology (U.R., A.M.T., T.A., T.R.), HUS Medical Imaging Center., Roine T; From the Department of Radiology (U.R., A.M.T., T.A., T.R.), HUS Medical Imaging Center timo.roine@iki.fi.; Department of Neuroscience and Biomedical Engineering (T.R.), Aalto University School of Science, Espoo, Finland.; Turku Brain and Mind Center (T.R.), University of Turku, Turku, Finland.

المصدر: AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2023 Jan; Vol. 44 (1), pp. 40-46. Date of Electronic Publication: 2022 Dec 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE

مواضيع طبية MeSH: Aspartylglucosaminuria*, Male ; Humans ; Young Adult ; Adult ; Case-Control Studies ; Brain/diagnostic imaging ; Magnetic Resonance Imaging ; Thalamus

المؤلفون: Chen X; Department of Pediatrics, UTSW Medical Center, Dallas, TX 75390, USA., Snanoudj-Verber S; Metabolic Biochemistry, University Hospital of Rouen, Rouen, France., Pollard L; Greenwood Genetics Center, Greenwood, SC 29646, USA., Hu Y; Department of Pediatrics, UTSW Medical Center, Dallas, TX 75390, USA., Cathey SS; Greenwood Genetics Center, Greenwood, SC 29646, USA., Tikkanen R; Institute of Biochemistry, Medical Faculty, University of Giessen, Giessen, Germany., Gray SJ; Department of Pediatrics, UTSW Medical Center, Dallas, TX 75390, USA. Electronic address: steven.gray@utsouthwestern.edu.

المصدر: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2021 Mar 03; Vol. 29 (3), pp. 989-1000. Date of Electronic Publication: 2020 Nov 11.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE

مواضيع طبية MeSH: Disease Models, Animal*, Aspartylglucosaminuria/*therapy , Aspartylglucosylaminase/*physiology , Dependovirus/*genetics , Genetic Therapy/*methods , Purkinje Cells/*metabolism, Animals ; Aspartylglucosaminuria/enzymology ; Aspartylglucosaminuria/genetics ; Aspartylglucosaminuria/pathology ; Body Weight ; Female ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout

المؤلفون: Goodspeed K; 7067University of Texas Southwestern Medical Center, Department of Pediatrics, Dallas, TX, USA., Feng C; 478892Neurogene Inc, New York, NY, USA., Laine M; Division of Child Neurology, Helsinki University Hospital, Helsinki, Finland., Lund TC; 5635University of Minnesota, Department of Pediatrics, Minneapolis, MN, USA.

المصدر: Journal of child neurology [J Child Neurol] 2021 Apr; Vol. 36 (5), pp. 403-414. Date of Electronic Publication: 2021 Jan 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Aspartylglucosaminuria/*diagnosis , Aspartylglucosaminuria/*physiopathology, Aspartylglucosaminuria/therapy ; Humans

المؤلفون: Pande S; Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts, 01854., Guo HC; Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts, 01854.

المصدر: Protein science : a publication of the Protein Society [Protein Sci] 2019 Jun; Vol. 28 (6), pp. 1013-1023. Date of Electronic Publication: 2019 Apr 09.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9211750 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-896X (Electronic) Linking ISSN: 09618368 NLM ISO Abbreviation: Protein Sci Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation*, Aspartylglucosaminuria/*enzymology , Aspartylglucosylaminase/*genetics , Aspartylglucosylaminase/*metabolism, Aspartylglucosaminuria/genetics ; Aspartylglucosylaminase/chemistry ; Glycopeptides/metabolism ; HeLa Cells ; Humans ; Hydrolysis ; Lysosomes/chemistry ; Lysosomes/metabolism ; Mutation ; Protein Conformation ; Tumor Cells, Cultured

المؤلفون: Pande S; Department of Biological Sciences, University of Massachusetts Lowell, MA, USA., Bizilj W; Department of Biological Sciences, University of Massachusetts Lowell, MA, USA., Guo HC; Department of Biological Sciences, University of Massachusetts Lowell, MA, USA.

المصدر: FEBS letters [FEBS Lett] 2018 Aug; Vol. 592 (15), pp. 2550-2561. Date of Electronic Publication: 2018 Jul 23.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: John Wiley & Sons Ltd Country of Publication: England NLM ID: 0155157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3468 (Electronic) Linking ISSN: 00145793 NLM ISO Abbreviation: FEBS Lett Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, Aspartylglucosaminuria/*genetics , Aspartylglucosylaminase/*chemistry , Aspartylglucosylaminase/*genetics, Alleles ; Amino Acid Sequence ; Amino Acid Substitution/genetics ; Aspartylglucosaminuria/enzymology ; Aspartylglucosylaminase/metabolism ; Crystallography, X-Ray ; Finland ; Homeostasis/genetics ; Humans ; Lysosomal Storage Diseases/genetics ; Models, Molecular ; Protein Structure, Secondary ; Proteolysis

المؤلفون: Arvio M; Päijät-Häme Social Welfare & Healthcare Joint Municipal Board, Lahti, Finland. maria.arvio@phsotey.fi.; KTO, The Special Welfare District of Southwestern Finland, Paimio, Finland. maria.arvio@phsotey.fi.; PEDEGO Research Unit, Oulu University Hospital, Finland, Oulu, Finland. maria.arvio@phsotey.fi., Mononen I; Newborn Screening Center Finland, Saske, Turku University Central Hospital, Turku, Finland.; The Joint Clinical Chemistry Laboratory at Turku University Hospital, Turku, Finland.; Department of Clinical Chemistry, University of Turku, PO Box 52, FIN-20521, Turku, Finland.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 Dec 01; Vol. 11 (1), pp. 162. Date of Electronic Publication: 2016 Dec 01.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Aspartylglucosaminuria/*metabolism, Acetylglucosamine/analogs & derivatives ; Acetylglucosamine/metabolism ; Animals ; Aspartylglucosaminuria/enzymology ; Aspartylglucosaminuria/genetics ; Aspartylglucosylaminase/genetics ; Aspartylglucosylaminase/metabolism ; Glycoproteins/metabolism ; Humans ; Lysosomal Storage Diseases/enzymology ; Lysosomal Storage Diseases/genetics ; Lysosomal Storage Diseases/metabolism ; Mutation

المؤلفون: Banning A; Institute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, 35392 Giessen, Germany., Tikkanen R; Institute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, 35392 Giessen, Germany.

المصدر: Cells [Cells] 2021 Oct 20; Vol. 10 (11). Date of Electronic Publication: 2021 Oct 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Aspartylglucosaminuria/*genetics , Aspartylglucosaminuria/*therapy , Luteolin/*pharmacology , Neuronal Ceroid-Lipofuscinoses/*genetics , Neuronal Ceroid-Lipofuscinoses/*therapy , RNA Splicing/*genetics , Xanthines/*pharmacology, Amino Acid Sequence ; Aspartylglucosylaminase/chemistry ; Aspartylglucosylaminase/genetics ; Aspartylglucosylaminase/metabolism ; Base Sequence ; Fibroblasts/metabolism ; Fibroblasts/pathology ; HEK293 Cells ; Homozygote ; Humans ; Luciferases, Firefly/metabolism ; Mutation/genetics ; RNA Splice Sites/genetics ; RNA Splicing Factors/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Tripeptidyl-Peptidase 1/genetics