Temat: "Neuroaxonal Dystrophies" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development.
Autorzy:: Noda M; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, 480-0392, Japan.
Ito H; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, 480-0392, Japan.
Nagata KI; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, 480-0392, Japan. .; Department of Neurochemistry, Nagoya University Graduate School of Medicine, Nagoya, Japan. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2021 Nov 19; Vol. 11 (1), pp. 22568. Date of Electronic Publication: 2021 Nov 19.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Nerve Degeneration*
Neurogenesis*
Brain/*metabolism
Carrier Proteins/*metabolism
Iron Metabolism Disorders/*metabolism
Neuroaxonal Dystrophies/*metabolism
Animals ; Axons/metabolism ; Axons/pathology ; Brain/embryology ; COS Cells ; Carrier Proteins/genetics ; Chlorocebus aethiops ; Dendrites/metabolism ; Dendrites/pathology ; Electrical Synapses/metabolism ; Electrical Synapses/pathology ; Gene Expression Regulation, Developmental ; Gene Knockout Techniques ; Gestational Age ; Iron Metabolism Disorders/embryology ; Iron Metabolism Disorders/genetics ; Iron Metabolism Disorders/pathology ; Mice, Inbred ICR ; Neuroaxonal Dystrophies/embryology ; Neuroaxonal Dystrophies/genetics ; Neuroaxonal Dystrophies/pathology ; Signal Transduction ; Mice
SCR Disease Name:: Neurodegeneration with brain iron accumulation (NBIA)

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Skocz do pozycji: 2.

Tytuł:: Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.
Autorzy:: Kurzawa-Akanbi M; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
Keogh M; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, Cambridge Biomedical Campus, Cambridge University, Cambridge, UK.
Tsefou E; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
Ramsay L; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Academic Unit of Pathology, Royal Hallamshire Hospital, Sheffield, UK.
Johnson M; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Keers S; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Wsa Ochieng L; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
McNair A; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
Singh P; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
Khan A; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
Pyle A; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
Hudson G; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
Ince PG; Academic Unit of Pathology, Royal Hallamshire Hospital, Sheffield, UK.
Attems J; Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Burn J; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.
Chinnery PF; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, Cambridge Biomedical Campus, Cambridge University, Cambridge, UK.
Morris CM; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Pokaż więcej
Źródło:: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2021 Feb; Vol. 47 (1), pp. 26-42. Date of Electronic Publication: 2020 Jun 19.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Apoferritins/*metabolism
Brain/*drug effects
Iron/*metabolism
Iron Metabolism Disorders/*metabolism
Neuroaxonal Dystrophies/*metabolism
Animals ; Apoferritins/chemistry ; Apoferritins/genetics ; Brain/pathology ; Disease Models, Animal ; Ferritins/chemistry ; Ferritins/genetics ; Ferritins/metabolism ; Humans ; Iron Metabolism Disorders/pathology ; Middle Aged ; Mitochondria/drug effects ; Mitochondria/metabolism ; Mutation/genetics ; Neuroaxonal Dystrophies/pathology ; Neurodegenerative Diseases/pathology ; Oxidative Stress/drug effects ; Protein Aggregates/physiology
SCR Disease Name:: Neuroferritinopathy

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Skocz do pozycji: 3.

Tytuł:: Complex heterozygous polymerase gamma mutation and cerebral folate deficiency in a child with refractory partial status.
Autorzy:: Samanta D; Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little rock, Arkansas, USA.
Ramakrishnaiah R; Division of Neuroradiology and Pediatric Radiology, University of Arkansas for Medical Sciences, Little rock, Arkansas, USA.
Frye RE; Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little rock, Arkansas, USA.; Pokaż więcej
Źródło:: Neurology India [Neurol India] 2019 Jan-Feb; Vol. 67 (1), pp. 259-260.
Typ publikacji:: Case Reports; Letter
MeSH Terms:: Brain/*pathology
Folate Receptor 1/*deficiency
Mutation/*genetics
Neuroaxonal Dystrophies/*genetics
Neuroaxonal Dystrophies/*pathology
Adolescent ; Fatal Outcome ; Folate Receptor 1/genetics ; Humans ; Male ; Neuroaxonal Dystrophies/diagnosis
SCR Disease Name:: Neurodegeneration Due To Cerebral Folate Transport Deficiency