المؤلفون: Nicoletti T; Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland. Electronic address: tommasof.nicoletti@gmail.com., Bink A; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland; Department of Neuroradiology, University Hospital Zurich, Switzerland., Helmchen B; Department of Pathology, University Hospital Zurich, Zurich, Switzerland., Briel N; Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland; Center for Neuropathology and Prion Research, Ludwig-Maximilians-University, Munich, Germany., Frontzek K; Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK., Vlad B; Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland., Gaspert A; Department of Pathology, University Hospital Zurich, Zurich, Switzerland., Boudriot E; Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland., Jung HH; Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland., Reuss AM; Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland., Weller M; Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland., Hortobágyi T; Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland.

المصدر: Journal of the neurological sciences [J Neurol Sci] 2024 Jan 15; Vol. 456, pp. 122841. Date of Electronic Publication: 2023 Dec 10.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Cystinosis*/complications , Cystinosis*/genetics , Cystinosis*/drug therapy , Amino Acid Transport Systems, Neutral*/genetics , Amino Acid Transport Systems, Neutral*/metabolism , Amino Acid Transport Systems, Neutral*/therapeutic use, Humans ; Adult ; Cystine/metabolism ; Cystine/therapeutic use ; Cysteamine/therapeutic use ; Inflammation/drug therapy ; Brain/diagnostic imaging ; Brain/metabolism

المؤلفون: Kılınç MT; Department of Urology, Konya City Hospital, Akabe Street, 42020, Konya, Turkey. m.tanselkilinc@gmail.com., Özkent MS; Department of Urology, Konya City Hospital, Akabe Street, 42020, Konya, Turkey., Göger YE; Department of Urology, School of Meram Medicine, Necmettin Erbakan University Medical Faculty, Konya, Turkey.

المصدر: Urolithiasis [Urolithiasis] 2024 Jan 08; Vol. 52 (1), pp. 23. Date of Electronic Publication: 2024 Jan 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 101602699 Publication Model: Electronic Cited Medium: Internet ISSN: 2194-7236 (Electronic) Linking ISSN: 21947228 NLM ISO Abbreviation: Urolithiasis Subsets: MEDLINE

مواضيع طبية MeSH: Lasers, Solid-State* , Lithotripsy, Laser*/adverse effects , Hydrogen Sulfide* , Kidney Calculi*, Humans ; Cystine ; Uric Acid ; Calcium Oxalate ; Holmium ; Electrons ; Sulfur

المؤلفون: Baysal İ; Vocational School of Health Services, Pharmacy Services Programme, Ankara, Türkiye., Yabanoglu-Ciftci S; Department of Biochemistry, Faculty of Pharmacy, Hacettepe University, Sihhiye, Ankara, Türkiye. Electronic address: samiye@hacettepe.edu.tr., Nemutlu E; Department of Analytical Chemistry, Faculty of Pharmacy, Hacettepe University, Sihhiye, Ankara, Türkiye., Eylem CC; Department of Analytical Chemistry, Faculty of Pharmacy, Hacettepe University, Sihhiye, Ankara, Türkiye., Gök-Topak ED; Department of Analytical Chemistry, Faculty of Pharmacy, Hacettepe University, Sihhiye, Ankara, Türkiye; Department of Analytical Chemistry, Faculty of Pharmacy, Lokman Hekim University, Sogutozu, Ankara, Türkiye., Ulubayram K; Department of Basic Pharmaceutical Sciences, Faculty of Pharmacy, Hacettepe University, Sihhiye, Ankara, Türkiye., Kır S; Department of Analytical Chemistry, Faculty of Pharmacy, Hacettepe University, Sihhiye, Ankara, Türkiye., Gulhan B; Department of Pediatric Nephrology, Hacettepe University School of Medicine, Sihhiye, Ankara, Türkiye., Uçar G; Department of Biochemistry, Faculty of Pharmacy, Hacettepe University, Sihhiye, Ankara, Türkiye., Ozaltin F; Department of Pediatric Nephrology, Hacettepe University School of Medicine, Sihhiye, Ankara, Türkiye; Nephrogenetics Laboratory, Department of Pediatric Nephrology, Hacettepe University School of Medicine, Sihhiye, Ankara, Türkiye; Center for Genomics and Rare Diseases, Hacettepe University, Sihhiye, Ankara, Türkiye; Department of Bioinformatics, Hacettepe University, Institute of Health Sciences, Ankara, Türkiye., Topaloglu R; Department of Pediatric Nephrology, Hacettepe University School of Medicine, Sihhiye, Ankara, Türkiye. Electronic address: rezantopaloglu@hacettepe.edu.tr.

المصدر: Laboratory investigation; a journal of technical methods and pathology [Lab Invest] 2024 Jan; Vol. 104 (1), pp. 100287. Date of Electronic Publication: 2023 Nov 09.

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

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 0376617 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0307 (Electronic) Linking ISSN: 00236837 NLM ISO Abbreviation: Lab Invest Subsets: MEDLINE

مواضيع طبية MeSH: Cystinosis*/genetics , Cystinosis*/metabolism , Amino Acid Transport Systems, Neutral*/genetics , Amino Acid Transport Systems, Neutral*/metabolism, Humans ; Cystine/genetics ; Cystine/metabolism ; Proteomics ; Biomarkers ; Gene Silencing ; RNA, Small Interfering/genetics

المؤلفون: Timmermand OV; School of Biomedical Engineering & Imaging Sciences, King's College London, London, UK., Witney TH; School of Biomedical Engineering & Imaging Sciences, King's College London, London, UK. tim.witney@kcl.ac.uk.

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2024; Vol. 2729, pp. 233-249.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Antioxidants* , Neoplasms*/diagnostic imaging, Humans ; Cystine ; Positron-Emission Tomography/methods ; Glutamic Acid

المؤلفون: Horsthuis DJ; The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Van Etten Building, Suite 1C, 1225 Morris Park Avenue, Bronx, NY, 10461, USA., Molholm S; The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Van Etten Building, Suite 1C, 1225 Morris Park Avenue, Bronx, NY, 10461, USA. sophie.molholm@einsteinmed.edu.; Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, NY, USA. sophie.molholm@einsteinmed.edu.; The Frederick J. and Marion A. Schindler Cognitive Neurophysiology Laboratory, Ernest J. Del Monte Institute for Neuroscience & Department of Neuroscience, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA. sophie.molholm@einsteinmed.edu., Foxe JJ; The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Van Etten Building, Suite 1C, 1225 Morris Park Avenue, Bronx, NY, 10461, USA.; Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, NY, USA.; The Frederick J. and Marion A. Schindler Cognitive Neurophysiology Laboratory, Ernest J. Del Monte Institute for Neuroscience & Department of Neuroscience, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA., Francisco AA; The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Van Etten Building, Suite 1C, 1225 Morris Park Avenue, Bronx, NY, 10461, USA. claraafrancisco@gmail.com.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Dec 12; Vol. 18 (1), pp. 389. Date of Electronic Publication: 2023 Dec 12.

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: Cystinosis*/genetics , Cystinosis*/drug therapy , Eye Diseases* , Amino Acid Transport Systems, Neutral*/genetics , Amino Acid Transport Systems, Neutral*/therapeutic use, Child ; Adult ; Humans ; Cystine/genetics ; Cystine/metabolism ; Cystine/therapeutic use ; Evoked Potentials, Visual ; Mutation/genetics ; Visual Perception

المؤلفون: Mayayo-Vallverdú C; Human Molecular Genetics Laboratory, Gene, Disease and Therapy Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), 08908 L'Hospitalet de Llobregat, Spain.; Genetics Section, Physiological Sciences Department, Health Sciences and Medicine Faculty, University of Barcelona, 08907 L'Hospitalet de Llobregat, Spain., Prat E; Human Molecular Genetics Laboratory, Gene, Disease and Therapy Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), 08908 L'Hospitalet de Llobregat, Spain.; Genetics Section, Physiological Sciences Department, Health Sciences and Medicine Faculty, University of Barcelona, 08907 L'Hospitalet de Llobregat, Spain., Vecino-Pérez M; Human Molecular Genetics Laboratory, Gene, Disease and Therapy Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), 08908 L'Hospitalet de Llobregat, Spain., González L; Human Molecular Genetics Laboratory, Gene, Disease and Therapy Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), 08908 L'Hospitalet de Llobregat, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Gràcia-Garcia S; Urinary Lithiasis Laboratory, Fundació Puigvert, 08025 Barcelona, Spain., San Miguel L; Urology Service, Fundació Puigvert, 08025 Barcelona, Spain., Lopera N; Urinary Lithiasis Laboratory, Fundació Puigvert, 08025 Barcelona, Spain., Arias A; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain., Artuch R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain., López de Heredia M; Human Molecular Genetics Laboratory, Gene, Disease and Therapy Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), 08908 L'Hospitalet de Llobregat, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Torrecilla C; Urology Service, Hospital Universitari de Bellvitge, 08908 L'Hospitalet de Llobregat, Spain., Rousaud-Barón F; Urology Service, Fundació Puigvert, 08025 Barcelona, Spain., Angerri O; Urology Service, Fundació Puigvert, 08025 Barcelona, Spain., Errasti-Murugarren E; Genetics Section, Physiological Sciences Department, Health Sciences and Medicine Faculty, University of Barcelona, 08907 L'Hospitalet de Llobregat, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Nunes V; Human Molecular Genetics Laboratory, Gene, Disease and Therapy Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), 08908 L'Hospitalet de Llobregat, Spain.; Genetics Section, Physiological Sciences Department, Health Sciences and Medicine Faculty, University of Barcelona, 08907 L'Hospitalet de Llobregat, Spain.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Dec 05; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 05.

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: Cystinuria*/genetics , Cystinuria*/pathology , Lithiasis*/complications, Humans ; Animals ; Mice ; Cystine ; Retrospective Studies ; Kidney/pathology

المؤلفون: Thiyagarajan R; Division of Geriatric Medicine, University of Kansas Medical Center, University of Kansas, Kansas City, KS 66160, USA., Taub M; Biochemistry Department, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY 14203, USA.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Nov 30; Vol. 24 (23). Date of Electronic Publication: 2023 Nov 30.

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: Cystinosis*/genetics , Induced Pluripotent Stem Cells*/metabolism , Amino Acid Transport Systems, Neutral*/metabolism, Humans ; Cystine/metabolism ; Sodium-Hydrogen Exchanger 3/genetics ; Mutation ; Lysosomes/metabolism

SCR Disease Name: Cystinosis, Infantile Nephropathic

المؤلفون: Itoh H; Department of Small Animal Clinical Science, Joint Faculty of Veterinary Medicine, Yamaguchi University, Yamaguchi, Japan., Tani K; Department of Veterinary Surgery, Joint Faculty of Veterinary Medicine, Yamaguchi University, Yamaguchi, Japan., Sunahara H; Department of Veterinary Surgery, Joint Faculty of Veterinary Medicine, Yamaguchi University, Yamaguchi, Japan., Nemoto Y; Department of Veterinary Surgery, Joint Faculty of Veterinary Medicine, Yamaguchi University, Yamaguchi, Japan., Nakaichi M; Department of Veterinary Radiology, Joint Faculty of Veterinary Medicine, Yamaguchi University, Yamaguchi, Japan., Horikirizono H; Department of Veterinary Radiology, Joint Faculty of Veterinary Medicine, Yamaguchi University, Yamaguchi, Japan., Itamoto K; Department of Small Animal Clinical Science, Joint Faculty of Veterinary Medicine, Yamaguchi University, Yamaguchi, Japan.

المصدر: The Journal of veterinary medical science [J Vet Med Sci] 2023 Nov 18; Vol. 85 (11), pp. 1237-1244. Date of Electronic Publication: 2023 Oct 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Japanese Society Of Veterinary Science Country of Publication: Japan NLM ID: 9105360 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1347-7439 (Electronic) Linking ISSN: 09167250 NLM ISO Abbreviation: J Vet Med Sci Subsets: MEDLINE

مواضيع طبية MeSH: Sulfasalazine*/pharmacology , Osteogenesis*, Animals ; Dogs ; Cystine ; Cell Differentiation ; Glutathione ; Amino Acid Transport System X-AG ; Stem Cells ; RNA, Messenger

المؤلفون: Knight LJ; Department of Physiology, School of Medical Sciences, University of Auckland.; New Zealand National Eye Centre, University of Auckland, New Zealand., Martis RM; Department of Physiology, School of Medical Sciences, University of Auckland.; School of Optometry and Vision Science, University of Auckland.; New Zealand National Eye Centre, University of Auckland, New Zealand., Donaldson PJ; Department of Physiology, School of Medical Sciences, University of Auckland.; New Zealand National Eye Centre, University of Auckland, New Zealand., Acosta ML; School of Optometry and Vision Science, University of Auckland.; New Zealand National Eye Centre, University of Auckland, New Zealand.; Centre for Brain Research, University of Auckland, New Zealand., Lim JC; Department of Physiology, School of Medical Sciences, University of Auckland.; New Zealand National Eye Centre, University of Auckland, New Zealand.; Centre for Brain Research, University of Auckland, New Zealand.

المصدر: Molecular vision [Mol Vis] 2023 Nov 06; Vol. 29, pp. 274-288. Date of Electronic Publication: 2023 Nov 06 (Print Publication: 2023).

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

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Glutamic Acid*/metabolism , Glutamine*/metabolism, Mice ; Animals ; Cystine/metabolism ; Cystine/pharmacology ; Mice, Knockout ; Antiporters/metabolism ; Mice, Inbred C57BL ; Retina/metabolism ; Adenosine Triphosphate/metabolism ; gamma-Aminobutyric Acid/metabolism ; Glycine/metabolism ; Neurotransmitter Agents ; Lactate Dehydrogenases/metabolism

المؤلفون: Guo X; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA 94305, USA., Schmiege P; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Assafa TE; Department of Chemistry and Biochemistry, University of California, Santa Cruz, CA 95060, USA., Wang R; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Xu Y; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA 94305, USA., Donnelly L; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Fine M; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Ni X; Laboratory of Membrane Proteins and Structural Biology, Biochemistry and Biophysics Center, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Jiang J; Laboratory of Membrane Proteins and Structural Biology, Biochemistry and Biophysics Center, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Millhauser G; Department of Chemistry and Biochemistry, University of California, Santa Cruz, CA 95060, USA. Electronic address: glennm@ucsc.edu., Feng L; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: liangf@stanford.edu., Li X; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Biophysics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: xiaochun.li@utsouthwestern.edu.

المصدر: Cell [Cell] 2022 Sep 29; Vol. 185 (20), pp. 3739-3752.e18. Date of Electronic Publication: 2022 Sep 15.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

مواضيع طبية MeSH: Cystine*/metabolism , Protons*, Amino Acid Transport Systems/metabolism ; Cysteine/metabolism ; Humans ; Lysosomes/metabolism ; TOR Serine-Threonine Kinases/metabolism