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Academic Journal

Molecular basis of inhibition of the amino acid transporter B 0 AT1 (SLC6A19).

  • Authors : Xu J; Research School of Chemistry, Australian National University, Canberra, ACT, Australia.; Hu Z

Subjects: Cryoelectron Microscopy* ; Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/metabolism ; Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/genetics

  • Source: Nature communications [Nat Commun] 2024 Aug 22; Vol. 15 (1), pp. 7224. Date of Electronic Publication: 2024 Aug 22.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.

  • Authors : Yu H; Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Hangzhou, Zhejiang, China.; Li L

Subjects: Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/genetics ; Neuroacanthocytosis*/Neuroacanthocytosis*/Neuroacanthocytosis*/genetics ; Neuroacanthocytosis*/Neuroacanthocytosis*/Neuroacanthocytosis*/pathology Neuroacanthocytosis, Mcleod Type

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Sep; Vol. 12 (9), pp. e70015.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

MiR-21-5p modulates LPS-induced acute injury in alveolar epithelial cells by targeting SLC16A10.

  • Authors : Zeng H; Emergency Department, The First Hospital of China Medical University, No.155 of North Street Nanjing, Heping District, Shenyang, 110001, Liaoning, China.; Zhou Y

Subjects: Acute Lung Injury*/Acute Lung Injury*/Acute Lung Injury*/chemically induced ; Acute Lung Injury*/Acute Lung Injury*/Acute Lung Injury*/metabolism ; Acute Lung Injury*/Acute Lung Injury*/Acute Lung Injury*/genetics

  • Source: Scientific reports [Sci Rep] 2024 May 15; Vol. 14 (1), pp. 11160. Date of Electronic Publication: 2024 May 15.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

SFXN1-mediated immune cell infiltration and tumorigenesis in lung adenocarcinoma: A potential therapeutic target.

  • Authors : Li Y; Department of Anaesthesiology and Perioperative Medicine, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, Henan 450003, China.; Yang W

Subjects: Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/genetics ; Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/immunology ; Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/pathology

  • Source: International immunopharmacology [Int Immunopharmacol] 2024 May 10; Vol. 132, pp. 111918. Date of Electronic Publication: 2024 Mar 26.Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 100965259 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model.

  • Authors : Medaer L; Laboratory of Molecular Virology and Gene Therapy, Department of Pharmacological and Pharmaceutical Sciences, Faculty of Medicine, KU Leuven, 3000 Leuven, Belgium.; David D

Subjects: Cystinosis*/Cystinosis*/Cystinosis*/metabolism ; Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/genetics ; Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/metabolism

  • Source: Cells [Cells] 2024 Apr 06; Vol. 13 (7). Date of Electronic Publication: 2024 Apr 06.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409

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Academic Journal

Lysosomal cystine accumulation activates mTOR signaling in cystinosis: are mTOR inhibitors the cure?

  • Authors : Christer S; Nephrogenetics Unit, Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.; Simons M

Subjects: Cystinosis*/Cystinosis*/Cystinosis*/drug therapy ; Amino Acid Transport Systems, Neutral*; Humans

  • Source: Kidney international [Kidney Int] 2024 Apr; Vol. 105 (4), pp. 656-658.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755

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Academic Journal

Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity.

  • Authors : Nicoletti T; Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland. Electronic address: .

Subjects: Cystinosis*/Cystinosis*/Cystinosis*/complications ; Cystinosis*/Cystinosis*/Cystinosis*/genetics ; Cystinosis*/Cystinosis*/Cystinosis*/drug therapy

  • Source: Journal of the neurological sciences [J Neurol Sci] 2024 Jan 15; Vol. 456, pp. 122841. Date of Electronic Publication: 2023 Dec 10.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Reconstitution of Rab11-FIP4 Expression Rescues Cellular Homeostasis in Cystinosis.

  • Authors : Rahman F; Department of Molecular and Cellular Biology, The Scripps Research Institute, La Jolla, California, USA.; Johnson JL

Subjects: Cystinosis*/Cystinosis*/Cystinosis*/metabolism ; Cystinosis*/Cystinosis*/Cystinosis*/genetics ; Lysosomes*/Lysosomes*/Lysosomes*/metabolism

  • Source: Molecular and cellular biology [Mol Cell Biol] 2024; Vol. 44 (12), pp. 577-589. Date of Electronic Publication: 2024 Oct 22.Publisher: Taylor & Francis Country of Publication: United States NLM ID: 8109087 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells.

Subjects: Cystinosis*/Cystinosis*/Cystinosis*/genetics ; Cystinosis*/Cystinosis*/Cystinosis*/metabolism ; Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/genetics

  • Source: 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.Publisher: Elsevier Inc Country of Publication: United States NLM ID: 0376617 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Functional analysis of the CTNS gene exonic variants predicted to affect splicing.

  • Authors : Li C; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.; Zhang R

Subjects: Cystinosis*/Cystinosis*/Cystinosis*/genetics ; Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/Amino Acid Transport Systems, Neutral*/genetics; Humans

  • Source: Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 323-328. Date of Electronic Publication: 2023 Nov 27.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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  • 1-10 of  1,493 results for ""Amino Acid Transport Systems, Neutral""