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The novel T107I Inherited prion disease can present as a clinical and biomarker mimic of familial Alzheimer's disease. 新的T107I遗传朊病毒疾病可以作为家族性阿尔茨海默病的临床和生物标志物模拟。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2025-01-09 DOI: 10.1080/01677063.2024.2440395
Leah Holm-Mercer, Thomas Coysh, Tze How Mok, Peter Rudge, Zita Reisz, Claire Troakes, Safa Al-Sarraj, Tracy Campbell, Laszlo L P Hosszu, Jan Bieschke, Fuquan Zhang, Jonathan D F Wadsworth, Colin Smith, Jenna Jenkinson, Timothy Rittman, Sebastian Brandner, Zane Jaunmuktane, John Collinge, Simon Mead
{"title":"The novel T107I Inherited prion disease can present as a clinical and biomarker mimic of familial Alzheimer's disease.","authors":"Leah Holm-Mercer, Thomas Coysh, Tze How Mok, Peter Rudge, Zita Reisz, Claire Troakes, Safa Al-Sarraj, Tracy Campbell, Laszlo L P Hosszu, Jan Bieschke, Fuquan Zhang, Jonathan D F Wadsworth, Colin Smith, Jenna Jenkinson, Timothy Rittman, Sebastian Brandner, Zane Jaunmuktane, John Collinge, Simon Mead","doi":"10.1080/01677063.2024.2440395","DOIUrl":"https://doi.org/10.1080/01677063.2024.2440395","url":null,"abstract":"<p><p>Inherited prion diseases (IPD) secondary to mutations of the prion protein gene, <i>PRNP,</i> exhibit diverse clinical phenotypes, capable of mimicking numerous primary neurodegenerative conditions. We describe the clinical phenotype and neuropathological findings in a family from County Limerick in Ireland presenting with Alzheimer's disease-like cognitive decline and motor symptoms caused by a novel missense mutation of <i>PRNP.</i> This mutation occurs in the <i>PRNP</i> central lysine cluster (CLC; codon 101-110), resulting in substitution of threonine with isoleucine at codon 107 (T107I). This case series highlights that IPD can be hard to distinguish from overlapping clinical syndromes seen in other neurodegenerative diseases. We also discuss similarities and differences of the novel mutation T107I to other pathogenic mutations of the CLC of <i>PRNP</i>.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-7"},"PeriodicalIF":1.8,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Enthusiasm meets opportunity: in memoriam of William L. Pak, 1932-2023. 热情邂逅机遇：纪念威廉·l·帕克，1932-2023。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-02 DOI: 10.1080/01677063.2024.2419107
Randall Shortridge
{"title":"Enthusiasm meets opportunity: in memoriam of William L. Pak, 1932-2023.","authors":"Randall Shortridge","doi":"10.1080/01677063.2024.2419107","DOIUrl":"https://doi.org/10.1080/01677063.2024.2419107","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-2"},"PeriodicalIF":1.8,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The pioneering use of the PDA phenotype by Bill Pak for screening a network of phototransduction genes and the associated signaling pathways. Bill Pak 率先利用 PDA 表型筛选光传导基因网络和相关信号通路。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-06-19 DOI: 10.1080/01677063.2024.2335146
Baruch Minke
{"title":"The pioneering use of the PDA phenotype by Bill Pak for screening a network of phototransduction genes and the associated signaling pathways.","authors":"Baruch Minke","doi":"10.1080/01677063.2024.2335146","DOIUrl":"10.1080/01677063.2024.2335146","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"150-156"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141419576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Personal essay of a rookie's journey with Bill Pak and his legacy: tales and perspectives on PI-PLC, NorpA and cyclophilin, NinaA - William L. Pak, PhD., 1932-2023: in memoriam. 白威廉博士（William L. Pak, PhD.，1932-2023：悼念）的个人随笔：一个菜鸟与比尔-白及其遗产的旅程：关于 PI-PLC、NorpA 和环嗜血素 NinaA 的故事和观点。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-06-24 DOI: 10.1080/01677063.2024.2366455
Paulo A Ferreira
{"title":"Personal essay of a rookie's journey with Bill Pak and his legacy: tales and perspectives on PI-PLC, NorpA and cyclophilin, NinaA - William L. Pak, PhD., 1932-2023: in memoriam.","authors":"Paulo A Ferreira","doi":"10.1080/01677063.2024.2366455","DOIUrl":"10.1080/01677063.2024.2366455","url":null,"abstract":"<p><p>The neurogenetics and vision community recently mourned William L. Pak, PhD, whose pioneering work spearheaded the genetic, electrophysiological, and molecular bases of biological processes underpinning vision. This essay provides a historical background to the daunting challenges and personal experiences that carved the path to seminal findings. It also reflects on the intellectual framework, mentoring philosophy, and inspirational legacy of Bill Pak's research. An emphasis and perspectives are placed on the discoveries and implications to date of the phosphatidylinositol-specific phospholipase C (PI-PLC), NorpA, and the cyclophilin, NinaA of the fruit fly, <i>Drosophila melanogaster</i>, and their respective mammalian homologues, PI-PLCβ4, and cyclophilin-related protein, Ran-binding protein 2 (Ranbp2) in critical biological processes and diseases of photoreceptors and other neurons.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"165-174"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tribute to Dr. William L. Pak and the origins of the Cold Spring Harbor summer course on Drosophila neurobiology. 致敬威廉·l·帕克博士和冷泉港果蝇神经生物学暑期课程的起源。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-30 DOI: 10.1080/01677063.2024.2448092
Chun-Fang Wu
{"title":"Tribute to Dr. William L. Pak and the origins of the Cold Spring Harbor summer course on <i>Drosophila</i> neurobiology.","authors":"Chun-Fang Wu","doi":"10.1080/01677063.2024.2448092","DOIUrl":"https://doi.org/10.1080/01677063.2024.2448092","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"38 4","pages":"135"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A tribute to Bill Pak, unsung hero of neurogenetics. 向神经遗传学的无名英雄比尔-帕克致敬。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-07-22 DOI: 10.1080/01677063.2024.2380297
Barry Ganetzky
{"title":"A tribute to Bill Pak, unsung hero of neurogenetics.","authors":"Barry Ganetzky","doi":"10.1080/01677063.2024.2380297","DOIUrl":"10.1080/01677063.2024.2380297","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"145-149"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141748442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The initial years of the Cold Spring Harbor Laboratory summer course on the neurobiology of Drosophila. 冷泉港实验室果蝇神经生物学暑期课程的最初几年。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-11-04 DOI: 10.1080/01677063.2024.2393315
W L Pak
{"title":"The initial years of the Cold Spring Harbor Laboratory summer course on the neurobiology of <i>Drosophila</i>.","authors":"W L Pak","doi":"10.1080/01677063.2024.2393315","DOIUrl":"10.1080/01677063.2024.2393315","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"136-139"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Memoir of the early years of the CSHL summer Drosophila neurobiology course: 1984-1985. CSHL 夏季果蝇神经生物学课程早年回忆录：1984-1985 年。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-09-02 DOI: 10.1080/01677063.2024.2393884
Ralph J Greenspan
{"title":"Memoir of the early years of the CSHL summer <i>Drosophila</i> neurobiology course: 1984-1985.","authors":"Ralph J Greenspan","doi":"10.1080/01677063.2024.2393884","DOIUrl":"10.1080/01677063.2024.2393884","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"140-143"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bill Pak: reflections on mentoring. Bill Pak：关于指导的思考。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-07-08 DOI: 10.1080/01677063.2024.2374054
Martin G Burg
{"title":"Bill Pak: reflections on mentoring.","authors":"Martin G Burg","doi":"10.1080/01677063.2024.2374054","DOIUrl":"10.1080/01677063.2024.2374054","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"175-177"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1. 一种家族性夏科-玛丽-牙病（2d 型），由一种以前从未报道过的 GARS1 变异体引起。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-11-26 DOI: 10.1080/01677063.2024.2428949
Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro
{"title":"A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in <i>GARS1</i>.","authors":"Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro","doi":"10.1080/01677063.2024.2428949","DOIUrl":"10.1080/01677063.2024.2428949","url":null,"abstract":"<p><p>Genetic variants in <i>GARS1</i> gene, encoding for the glycyl tRNA synthetase 1, cause Charcot-Marie-Tooth disease, type 2D (CMT2D). Here we describe a 14-year-old boy affected by neuropathy with prominent weakness in the upper extremities carrying two <i>in cis</i> missense variants in <i>GARS1</i> gene: the c.803C > T, p.Thr268Ile and the c.842T > A, p.Met281Lys. The mutated allele segregates in affected member of the family, thus supporting its pathogenic role. Although a combined role of these variants cannot be excluded, we suggest a strong association of the variant c.842T > A (p.Met281Lys), never reported in patients neither in controls, with the disease. In Italian patients, pathogenic variants in <i>GARS1</i> are very rare, so our result expands the mutational spectrum of the gene and the genetic epidemiology of CMT2D.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"184-186"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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