Search Results

Filter
  • 1-9 of  9 results for ""Amino Acid Transport Systems, Neutral""
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis.

  • Authors : Krohn P; Institute of Physiology, University of Zurich, Zurich 8057, Switzerland.; Rega LR

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

  • Source: Human molecular genetics [Hum Mol Genet] 2022 Jul 07; Vol. 31 (13), pp. 2262-2278.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print

Record details

×
Academic Journal

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.

  • Authors : Kuht HJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK.; Han J

Subjects: Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/*genetics ; Anterior Eye Segment/Anterior Eye Segment/Anterior Eye Segment/*abnormalities ; Eye Abnormalities/Eye Abnormalities/Eye Abnormalities/*genetics Foveal Hypoplasia and Anterior Segment Dysgenesis

  • Source: Human molecular genetics [Hum Mol Genet] 2020 Nov 04; Vol. 29 (18), pp. 2989-3002.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print

Record details

×
Academic Journal

Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis.

  • Authors : Raggi C; Division of Nephrology, Université catholique de Louvain, Brussels, Belgium.; Luciani A

Subjects: Cell Differentiation/Cell Differentiation/Cell Differentiation/*physiology ; Cystinosis/Cystinosis/Cystinosis/*metabolism ; Lysosomes/Lysosomes/Lysosomes/*metabolism

  • Source: Human molecular genetics [Hum Mol Genet] 2014 May 01; Vol. 23 (9), pp. 2266-78. Date of Electronic Publication: 2013 Dec 06.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model:

Record details

×
Academic Journal

Rare mutations associating with serum creatinine and chronic kidney disease.

Subjects: Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/*genetics ; Creatinine/Creatinine/Creatinine/*blood ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: Human molecular genetics [Hum Mol Genet] 2014 Dec 20; Vol. 23 (25), pp. 6935-43. Date of Electronic Publication: 2014 Jul 31.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model:

Record details

×
Academic Journal

Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.

  • Authors : Bartoccioni P; Department of Biochemistry and Molecular Biology, University of Barcelona, Barcelona, Spain.; Rius M

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

  • Source: Human molecular genetics [Hum Mol Genet] 2008 Jun 15; Vol. 17 (12), pp. 1845-54. Date of Electronic Publication: 2008 Mar 10.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model:

Record details

×
Academic Journal

The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse.

  • Authors : Touré A; Institut Cochin, Université Paris Descartes, CNRS (UMR8104), Paris, France.; Lhuillier P

Subjects: Sperm Motility*; Anion Transport Proteins/Anion Transport Proteins/Anion Transport Proteins/*physiology ; Antiporters/Antiporters/Antiporters/*physiology

  • Source: Human molecular genetics [Hum Mol Genet] 2007 Aug 01; Vol. 16 (15), pp. 1783-93. Date of Electronic Publication: 2007 May 20.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model:

Record details

×
Academic Journal

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.

  • Authors : Uebelhoer M; Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, 1200 Brussels, Belgium.; Nätynki M

Subjects: Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/*metabolism ; Proto-Oncogene Proteins c-akt/Proto-Oncogene Proteins c-akt/Proto-Oncogene Proteins c-akt/*metabolism ; Proto-Oncogene Proteins c-sis/Proto-Oncogene Proteins c-sis/Proto-Oncogene Proteins c-sis/*metabolism

  • Source: Human molecular genetics [Hum Mol Genet] 2013 Sep 01; Vol. 22 (17), pp. 3438-48. Date of Electronic Publication: 2013 Apr 30.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model:

Record details

×
Academic Journal

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

  • Authors : Kalatzis V; Inserm U574, Hôpital Necker-Enfants Malades, Paris, France. ; Nevo N

Subjects: Cystinosis* ; Mutation*; Cystine/Cystine/Cystine/*metabolism

  • Source: Human molecular genetics [Hum Mol Genet] 2004 Jul 01; Vol. 13 (13), pp. 1361-71. Date of Electronic Publication: 2004 May 05.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model:

Record details

×
Academic Journal

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

  • Authors : Attard M; Nephrourology Unit, Institute of Child Health, University College London Medical School, 30 Guilford Street, London WC1N 1EH, UK.; Jean G

Subjects: Glycoproteins*; Cystinosis/Cystinosis/Cystinosis/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: Human molecular genetics [Hum Mol Genet] 1999 Dec; Vol. 8 (13), pp. 2507-14.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print

Record details

×
  • 1-9 of  9 results for ""Amino Acid Transport Systems, Neutral""