更新于：2024-11-01

PANK2

更新于：2024-11-01

基本信息

别名

C20orf48、FLJ11729、HARP

+ [12]

简介

Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis (PubMed:15659606, PubMed:17825826, PubMed:17242360, PubMed:16272150). Required for angiogenic activity of umbilical vein of endothelial cells (HUVEC) (PubMed:30221726). Cytoplasmic isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis.

关联

100 项与 PANK2 相关的临床结果

登录后查看更多信息

100 项与 PANK2 相关的转化医学

登录后查看更多信息

0 项与 PANK2 相关的专利（医药）

登录后查看更多信息

346

项与 PANK2 相关的文献（医药）

2025-01-01·Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA)

Review

作者: Cudna, Agnieszka ; Wydrych, Agata ; Wieckowski, Mariusz R ; Pierzynowska, Karolina ; Jakubek-Olszewska, Patrycja ; Pinton, Paolo ; Węgrzyn, Grzegorz ; Janikiewicz, Justyna ; Rydzewski, Marcel ; Cwyl, Maciej ; Lebiedzińska-Arciszewska, Magdalena ; Cyske, Zuzanna ; Skowrońska, Marta ; Koopman, Werner J H ; Kurkowska-Jastrzębska, Iwona ; Pakuła, Barbara ; Gaffke, Lidia ; Rintz, Estera ; Dobosz, Aneta M ; Dobrzyń, Agnieszka

Mutations in the following genes: PANK2, PLA2G6, C19orf12, WDR45, CP, FA2H, ATP13A2, FTL, DCAF17, and CoASY are associated with the development of different subtypes of inherited rare disease Neurodegeneration with Brain Iron Accumulation (NBIA). Additionally, recently described mutations in FTH1, AP4M1, REPS1, SCP2, CRAT and GTPBP2 affecting iron and lipid metabolism also are thought to be involved in NBIA development. Four main subtypes, pantothenate kinase-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), mitochondrial membrane protein-associated neurodegeneration (MPAN) and beta-propeller protein-associated neurodegeneration (BPAN), are responsible for up to 82 % of all NBIA cases. Here we studied fibroblasts from 11 patients with pathogenic mutations in C19orf12, and demonstrate various cellular aberrations. Differences between fibroblasts from healthy individuals and MPAN patients were potentiated when cells were grown under oxidative phosphorylation (OXPHOS) promoting condition suggesting an impaired metabolic flexibility. The extent of some of the cellular aberrations quantitatively correlated with disease severity, suggesting their involvement in the NBIA pathomechanism.

2024-06-01·Clinical Neurology and Neurosurgery

Deep brain stimulation for pediatric pantothenate kinase-associated neurodegeneration with status dystonicus: A case report and literature review

Review

作者: Ding, Changhong ; Wei, Shanpo ; Ren, Shuhong ; Zhai, Zhenhang ; Liu, Tinghong ; Sun, Ke ; Zhang, Guojun ; Liang, Shuli ; Zhai, Feng

BACKGROUNDPantothenate kinase-associated neurodegeneration (PKAN) is a type of inherited metabolic disorder caused by mutation in the PANK2 gene. The metabolic disorder mainly affects the basal ganglia region and eventually manifests as dystonia. For patients of dystonia, their dystonic symptom may progress to life-threatening emergency--status dystonicus.OBJECTIVEWe described a case of a child with PKAN who had developed status dystonicus and was successfully treated with deep brain stimulation (DBS). Based on this rare condition, we analysed the clinical features of PKAN with status dystonicus and reviewed the reasonable management process of this condition.CONCLUSIONThis case confirmed the rationality of choosing DBS for the treatment of status dystonicus. Meanwhile, we found that children with classic PKAN have a cluster of risk factors for developing status dystonicus. Once children diagnosed with similar neurodegenerative diseases are under status dystonicus, DBS can be active considered because it has showed high control rate of this emergent condition.

2024-06-01·Parkinsonism & Related Disorders

Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation

Article

作者: Pedroso, José Luiz ; Araújo Salomão, Rubens Paulo ; Bonifati, Vincenzo ; Ferraz, Henrique Ballalai ; Barsottini, Orlando G ; Kurian, Manju A ; Breedveld, Guido J ; Rezende Filho, Flávio Moura ; Borges, Vanderci

Neurodegeneration with brain iron accumulation (NBIA) encompasses a clinically and genetically heterogeneous group of rare disorders. Here, we report clinical, neuroimaging and genetic studies in twenty three Brazilian NBIA patients. In thirteen subjects, deleterious variants were detected in known NBIA-causing genes (PANK2, PLA2G6, C9ORF12, WDR45 and FA2H), including previously unreported variants in PANK2 and PLA2G6. Two patients carried rare, likely pathogenic variants in genes not previously associated with NBIA: KMT2A c.11785A > C (p.Ile3929Leu), and TIMM8A c.127T > C (p.Cys43Arg), suggesting an expansion of their associated phenotypes to include NBIA. In eight patients the etiology remains unsolved, suggesting variants undetectable by the adopted methods, or the existence of additional NBIA-causing genes.