المؤلفون: Sanchez KL; Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA., Shin SD; Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA., Rajagopal NP; Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA., White JB; Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA., Currais A; The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA., Soriano-Castell D; The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA., Maher P; The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA., Soriano S; Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA.

المصدر: Genes [Genes (Basel)] 2024 Aug 13; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick Disease, Type C*/metabolism , Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/pathology , Amyloid beta-Protein Precursor*/genetics , Amyloid beta-Protein Precursor*/metabolism , tau Proteins*/metabolism , tau Proteins*/genetics , Cholesterol*/metabolism , Signal Transduction* , Homeostasis* , Niemann-Pick C1 Protein* , Cerebellum*/metabolism , Cerebellum*/pathology , Interferons*/metabolism , Interferons*/genetics, Animals ; Mice ; Phosphorylation ; Cerebral Cortex/metabolism ; Cerebral Cortex/pathology ; Mice, Knockout ; Disease Models, Animal

المؤلفون: Mishra S; Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA., Kell P; Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA., Scherrer D; Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA., Dietzen DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Vite CH; Department of Clinical Studies and Advanced Medicine, University of Pennsylvania School of Veterinary Medicine, PA, USA., Berry-Kravis E; Department of Pediatrics, Neurological Sciences and Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL, USA., Davidson C; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD, USA., Cologna SM; Department of Chemistry, University of Illinois Chicago, Chicago, IL, USA., Porter FD; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD, USA., Ory DS; Arbor Biotechnologies, Cambridge, MA, USA., Jiang X; Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: jiangxuntian@wustl.edu.

المصدر: Journal of lipid research [J Lipid Res] 2024 Aug; Vol. 65 (8), pp. 100600. Date of Electronic Publication: 2024 Jul 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick Disease, Type C*/metabolism , Niemann-Pick Disease, Type C*/pathology , Lysophosphatidylcholines*/metabolism, Animals ; Cats ; Mice ; Humans ; Male ; Female ; Brain/metabolism ; 2-Hydroxypropyl-beta-cyclodextrin ; Child ; Adult ; Liver/metabolism ; Adolescent ; Child, Preschool ; beta-Cyclodextrins/pharmacology

المؤلفون: Almenabawy N; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada., Hung C; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada., Sosova I; Alberta Newborn Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, Alberta, Canada.; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada., Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Women and Children's Health Research Institute, University of Alberta, Edmonton, Alberta, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, Alberta, Canada.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63595. Date of Electronic Publication: 2024 Mar 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick C1 Protein*/genetics , Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/diagnosis , Niemann-Pick Disease, Type C*/pathology , Exome Sequencing* , Phenotype*, Humans ; Male ; Intracellular Signaling Peptides and Proteins/genetics ; Mutation/genetics ; Infant

المؤلفون: Yamada Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan; Department of Pharmacy, University of Miyazaki Hospital, 5200 Kihara, Kiyotake-cho, Miyazaki 889-1692, Japan., Ishitsuka Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan. Electronic address: y-zuka@gpo.kumamoto-u.ac.jp., Fukaura-Nishizawa M; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Kawata T; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Ishii A; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Shirakawa A; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Sakai T; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Tanaka M; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Kondo Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Takeo T; Division of Reproductive Engineering, Center for Animal Resources and Development (CARD), Kumamoto University, 2-2-1 Honjo, Chuo-ku, Kumamoto 860-0811, Japan., Nakagata N; Division of Reproductive Biotechnology and Innovation, Center for Animal Resources and Development (CARD), Institute of Resource Development and Analysis, Kumamoto University, 2-2-1 Honjo, Chuo-ku, Kumamoto 860-0811, Japan., Motoyama K; Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Higashi T; Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Arima H; Laboratory of Evidence-Based Pharmacotherapy, Daiichi University of Pharmacy, 22-1 Tamagawa-machi, Minami-ku, Fukuoka 815-8511, Japan., Seki T; Department of Pharmacology, Faculty of Pharmaceutical Sciences, Himeji Dokkyo University, 7-2-1 Kami-ohno, Himeji, Hyogo 670-8524, Japan., Kurauchi Y; Department of Chemico-Pharmacological Sciences, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Katsuki H; Department of Chemico-Pharmacological Sciences, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Higaki K; Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, 86 Nishi-cho, Yonago 683-8503, Japan., Ikeda R; Department of Pharmacy, University of Miyazaki Hospital, 5200 Kihara, Kiyotake-cho, Miyazaki 889-1692, Japan., Matsuo M; Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1, Nabeshima, Saga 849-8501, Japan., Era T; Department of Cell Modulation, Institute of Molecular Embryology and Genetics, Kumamoto University, 2-2-1 Honjo, Chuo-ku, Kumamoto 860-0811, Japan., Irie T; Department of Pharmaceutical Packaging Technology, Faculty of Life Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan. Electronic address: tirie@gpo.kumamoto-u.ac.jp.

المصدر: Life sciences [Life Sci] 2024 Aug 01; Vol. 350, pp. 122776. Date of Electronic Publication: 2024 Jun 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375521 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0631 (Electronic) Linking ISSN: 00243205 NLM ISO Abbreviation: Life Sci Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick Disease, Type C*/drug therapy , Niemann-Pick Disease, Type C*/pathology , Liver*/drug effects , Liver*/metabolism , Liver*/pathology , gamma-Cyclodextrins*/pharmacology , Disease Models, Animal*, Animals ; Mice ; Tissue Distribution ; Cholesterol/metabolism ; Male ; Mice, Inbred BALB C

المؤلفون: Stern S; Office of Clinical Pharmacology, Office of Translational Science, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, Maryland, 20993, USA. Sydney.Stern@fda.hhs.gov., Crisamore K; Office of Clinical Pharmacology, Office of Translational Science, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, Maryland, 20993, USA., Schuck R; Office of Clinical Pharmacology, Office of Translational Science, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, Maryland, 20993, USA., Pacanowski M; Office of Clinical Pharmacology, Office of Translational Science, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, Maryland, 20993, USA.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 26; Vol. 19 (1), pp. 280. Date of Electronic Publication: 2024 Jul 26.

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: Niemann-Pick Disease, Type C*/drug therapy , Niemann-Pick Disease, Type C*/metabolism , Biomarkers*/metabolism , Biomarkers*/blood, Humans

المؤلفون: Reyhani-Ardabili M; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Fathi M; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Ghafouri-Fard S; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. s.ghafourifard@sbmu.ac.ir.

المصدر: Molecular biology reports [Mol Biol Rep] 2024 Jul 20; Vol. 51 (1), pp. 828. Date of Electronic Publication: 2024 Jul 20.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: CRISPR-Cas Systems*/genetics , Niemann-Pick Disease, Type C*/therapy , Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/metabolism , Gene Editing*/methods , Genetic Therapy*/methods , Cholesterol*/metabolism, Humans ; Animals ; Niemann-Pick C1 Protein ; Disease Models, Animal

المؤلفون: Anthofer L; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, D-10117 Berlin, Germany.; Institute of Anatomy, Leipzig University, D-04103 Leipzig, Germany., Gmach P; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, D-10117 Berlin, Germany., Uretmen Kagiali ZC; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, D-10117 Berlin, Germany., Kleinau G; Group Structural Biology of Cellular Signaling, Institute of Medical Physics and Biophysics, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, D-10117 Berlin, Germany., Rotter J; Institute of Anatomy, Leipzig University, D-04103 Leipzig, Germany., Opitz R; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, D-10117 Berlin, Germany., Scheerer P; Group Structural Biology of Cellular Signaling, Institute of Medical Physics and Biophysics, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, D-10117 Berlin, Germany., Beck-Sickinger AG; Faculty of Life Sciences, Institute of Biochemistry, Leipzig University, D-04103 Leipzig, Germany., Wolf P; Faculty of Life Sciences, Institute of Biochemistry, Leipzig University, D-04103 Leipzig, Germany., Biebermann H; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, D-10117 Berlin, Germany., Bechmann I; Institute of Anatomy, Leipzig University, D-04103 Leipzig, Germany., Kühnen P; Department for Pediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, D-10117 Berlin, Germany., Krude H; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, D-10117 Berlin, Germany., Paisdzior S; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, D-10117 Berlin, Germany.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 10; Vol. 25 (14). Date of Electronic Publication: 2024 Jul 10.

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: Receptor, Melanocortin, Type 4*/metabolism , Receptor, Melanocortin, Type 4*/genetics , Monocarboxylic Acid Transporters*/metabolism , Monocarboxylic Acid Transporters*/genetics , Type C Phospholipases*/metabolism, Humans ; HEK293 Cells ; Signal Transduction ; Cyclic AMP/metabolism ; Symporters/metabolism ; Symporters/genetics ; Protein Binding ; Animals

المؤلفون: Li J; Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Sayeed S, McClane BA; Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

المصدر: Virulence [Virulence] 2024 Dec; Vol. 15 (1), pp. 2388219. Date of Electronic Publication: 2024 Aug 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101531386 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2150-5608 (Electronic) Linking ISSN: 21505594 NLM ISO Abbreviation: Virulence Subsets: MEDLINE

مواضيع طبية MeSH: Clostridium perfringens*/genetics , Clostridium perfringens*/growth & development , Clostridium perfringens*/metabolism , Clostridium perfringens*/physiology , Bacterial Toxins*/genetics , Bacterial Toxins*/metabolism , Gas Gangrene*/microbiology , Type C Phospholipases*/genetics , Type C Phospholipases*/metabolism, Mice ; Animals ; Cell Line ; Cell Differentiation ; Muscle Cells/microbiology ; Muscle Cells/metabolism ; Calcium-Binding Proteins/genetics ; Calcium-Binding Proteins/metabolism ; Hemolysin Proteins/genetics ; Hemolysin Proteins/metabolism ; Bacterial Proteins/genetics ; Bacterial Proteins/metabolism ; Gene Expression Regulation, Bacterial ; Quorum Sensing

المؤلفون: van Hooren M; Plant Cell Biology, Swammerdam Institute for Life Sciences, University of Amsterdam, PO Box 1210, Amsterdam 1000BE, The Netherlands., van Wijk R; Plant Cell Biology, Swammerdam Institute for Life Sciences, University of Amsterdam, PO Box 1210, Amsterdam 1000BE, The Netherlands., Vaseva II; Laboratory of Functional Plant Biology, Department of Biology, Ghent University, K.L. Ledeganckstraat 35, Ghent B-9000, Belgium., Van Der Straeten D; Laboratory of Functional Plant Biology, Department of Biology, Ghent University, K.L. Ledeganckstraat 35, Ghent B-9000, Belgium., Haring M; Plant Physiology, Swammerdam Institute for Life Sciences, University of Amsterdam, PO Box 1210, Amsterdam 1000BE, The Netherlands., Munnik T; Plant Cell Biology, Swammerdam Institute for Life Sciences, University of Amsterdam, PO Box 1210, Amsterdam 1000BE, The Netherlands.

المصدر: Plant & cell physiology [Plant Cell Physiol] 2024 Jun 27; Vol. 65 (6), pp. 885-903.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: Japan NLM ID: 9430925 Publication Model: Print Cited Medium: Internet ISSN: 1471-9053 (Electronic) Linking ISSN: 00320781 NLM ISO Abbreviation: Plant Cell Physiol Subsets: MEDLINE

مواضيع طبية MeSH: Arabidopsis*/genetics , Arabidopsis*/physiology , Droughts* , Type C Phospholipases*/genetics , Type C Phospholipases*/metabolism , Plants, Genetically Modified* , Gene Expression Regulation, Plant*, Ectopic Gene Expression ; Plant Shoots/genetics ; Plant Shoots/physiology ; Stress, Physiological/genetics ; Arabidopsis Proteins/genetics ; Arabidopsis Proteins/metabolism

المؤلفون: Solomon BI; Speech-Language Pathology Section, Mark O. Hatfield Clinical Center, National Institutes of Health, Bethesda, MD, USA. Bsolomon@nih.gov., Muñoz AM; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Sinaii N; Biostatistics and Clinical Epidemiology Service, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA., Mohamed H; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Farhat NM; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Alexander D; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Do AD; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Porter FD; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 11; Vol. 19 (1), pp. 231. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Journal Article

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: Niemann-Pick Disease, Type C*/diagnosis , Niemann-Pick Disease, Type C*/physiopathology , Deglutition*/physiology , Deglutition Disorders*/physiopathology, Humans ; Female ; Adult ; Male ; Middle Aged ; Prospective Studies ; Young Adult