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Academic Journal

Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.

  • Authors : Wiseman JP; Sheffield Institute for Translational Neuroscience (SITraN), Division of Neuroscience, University of Sheffield, Sheffield, UK.; Neuroscience Institute, University of Sheffield, Western Bank, Sheffield, UK.

Subjects: Genetic Therapy*/Genetic Therapy*/Genetic Therapy*/methods ; Dependovirus*/Dependovirus*/Dependovirus*/genetics ; Disease Models, Animal*

  • Source: EMBO molecular medicine [EMBO Mol Med] 2024 Nov; Vol. 16 (11), pp. 2882-2917. Date of Electronic Publication: 2024 Oct 02.Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia.

  • Authors : Caracci MO; Departamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, P. Universidad Católica de Chile, Santiago, Chile.; Pizarro H

Subjects: Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/genetics ; Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/metabolism ; LDL-Receptor Related Proteins*/LDL-Receptor Related Proteins*/LDL-Receptor Related Proteins*/genetics

  • Source: Progress in neurobiology [Prog Neurobiol] 2024 Mar; Vol. 234, pp. 102575. Date of Electronic Publication: 2024 Jan 26.Publisher: Pergamon Press Country of Publication: England NLM ID: 0370121 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

  • Authors : Orsini A; Pediatric Neurology, Pediatric Department, AOUP Santa Chiara Hospital, 56100 Pisa, Italy.; Santangelo A

Subjects: Phenotype* ; Mutation* ; Peptide Termination Factors*/Peptide Termination Factors*/Peptide Termination Factors*/genetics

  • Source: Genes [Genes (Basel)] 2024 Mar 29; Vol. 15 (4). Date of Electronic Publication: 2024 Mar 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Lymphocytic choriomeningitis arenavirus requires cellular COPI and AP-4 complexes for efficient virion production.

  • Authors : Byford O; School of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Leeds, Leeds, United Kingdom.; Astbury Centre for Structural Molecular Biology, University of Leeds, Leeds, United Kingdom.

Subjects: Lymphocytic Choriomeningitis* ; Lymphocytic choriomeningitis virus*/Lymphocytic choriomeningitis virus*/Lymphocytic choriomeningitis virus*/physiology ; Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/metabolism

  • Source: Journal of virology [J Virol] 2024 Mar 19; Vol. 98 (3), pp. e0200623. Date of Electronic Publication: 2024 Feb 09.Publisher: American Society For Microbiology Country of Publication: United States NLM ID: 0113724 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.

  • Authors : Bellad A; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.; Manipal Academy of Higher Education, Manipal, Karnataka, 576104, India.

Subjects: Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/geneticsSpastic paraplegia type 5A, recessive

  • Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Dec; Vol. 42 (12), pp. 5311-5319. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.

  • Authors : Alecu JE; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.

Subjects: Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/genetics ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/genetics; Humans

  • Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Sep; Vol. 38 (9), pp. 1742-1750. Date of Electronic Publication: 2023 Jul 22.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

AP-4 loss in CRISPR-edited zebrafish affects early embryo development.

  • Authors : Pembridge OG; Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA.; Wallace NS

Subjects: Zebrafish*/Zebrafish*/Zebrafish*/genetics ; Zebrafish*/Zebrafish*/Zebrafish*/metabolism ; Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/genetics

  • Source: Advances in biological regulation [Adv Biol Regul] 2023 Jan; Vol. 87, pp. 100945. Date of Electronic Publication: 2022 Dec 22.Publisher: Elsevier Country of Publication: England NLM ID: 101572336 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-4934

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Academic Journal

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

  • Authors : Behne R; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Department of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.

Subjects: Adaptor Protein Complex 4/Adaptor Protein Complex 4/Adaptor Protein Complex 4/*genetics ; Adaptor Protein Complex 4/Adaptor Protein Complex 4/Adaptor Protein Complex 4/*metabolism ; Autophagy-Related Proteins/Autophagy-Related Proteins/Autophagy-Related Proteins/*metabolism

  • Source: Human molecular genetics [Hum Mol Genet] 2020 Jan 15; Vol. 29 (2), pp. 320-334.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.

Subjects: Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/genetics ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/genetics; Humans

  • Source: European journal of medical genetics [Eur J Med Genet] 2022 Nov; Vol. 65 (11), pp. 104620. Date of Electronic Publication: 2022 Sep 16.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

AP-4 regulates neuronal lysosome composition, function, and transport via regulating export of critical lysosome receptor proteins at the trans-Golgi network.

  • Authors : Majumder P; Department of Anatomy and Cell Biology, College of Medicine, University of Illinois at Chicago, Chicago, IL 60612.; Edmison D

Subjects: Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/metabolism ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/metabolism; Animals

  • Source: Molecular biology of the cell [Mol Biol Cell] 2022 Oct 01; Vol. 33 (12), pp. ar102. Date of Electronic Publication: 2022 Aug 17.Publisher: American Society for Cell Biology Country of Publication: United States NLM ID: 9201390 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  429 results for ""Adaptor Protein Complex 4""