update citations for plin4

Author: hdashnow

data/STRchive-citations.json

@@ -146132,4 +146132,70 @@
   "id": "isbn:978-3-031-66932-3",
   "manubot_success": false,
   "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'isbn:978-3-031-66932-3']' timed out after 3 seconds"
-}]
+},
+
+{
+  "id": "pmid:36151849",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/36151849",
+  "title": "Subsarcolemmal and cytoplasmic p62 positivity and rimmed vacuoles are distinctive for PLIN4-myopathy.",
+  "type": "article-journal",
+  "doi": "10.1002/acn3.51666",
+  "authors": [
+    ["Qi", "Wang"],
+    ["Meng", "Yu"],
+    ["Wei", "Zhang"],
+    ["Qiang", "Gang"],
+    ["Zhiying", "Xie"],
+    ["Jin", "Xu"],
+    ["Chao", "Zhou"],
+    ["Depeng", "Wang"],
+    ["Lingchao", "Meng"],
+    ["He", "Lv"],
+    ["Zhirong", "Jia"],
+    ["Jianwen", "Deng"],
+    ["Yun", "Yuan"],
+    ["Zhaoxia", "Wang"]
+  ],
+  "publisher": "Annals of clinical and translational neurology",
+  "issn": "2328-9503",
+  "date": "2022-09-24",
+  "abstract": "PLIN4-myopathy is a recently identified autosomal dominant muscular disorder caused by the coding 99\u2009bp repeat expansion in PLIN4, presenting with distal or proximal weakness. Here, we report one family and one sporadic case of adult-onset PLIN4-associated limb-girdle weakness, whose diagnoses were achieved by a comprehensive genetic analysis workup. We provided additional evidence that the combination of subsarcolemmal/cytoplasmic ubiquitin/p62 positive deposits and rimmed vacuoles could serve as a strong indicator of PLIN4-myopathy. Moreover, we found novel myopathological features that were ultrastructural subsarcolemmal filamentous materials and membrane-bound granulofilamentous inclusions formed by the co-deposition of disrupted lipid droplets and p62 protein aggregates.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36151849"
+},
+{
+  "id": "pmid:37145156",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/37145156",
+  "title": "PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.",
+  "type": "article-journal",
+  "doi": "10.1007/s00415-023-11729-8",
+  "authors": [
+    ["Lorenzo", "Maggi"],
+    ["Sara", "Gibertini"],
+    ["Eliana", "Iannibelli"],
+    ["Annamaria", "Gallone"],
+    ["Silvia", "Bonanno"],
+    ["Daniele", "Cazzato"],
+    ["Simonetta", "Gerevini"],
+    ["Marco", "Moscatelli"],
+    ["Flavia", "Blasevich"],
+    ["Giorgia", "Riolo"],
+    ["Renato", "Mantegazza"],
+    ["Alessandra", "Ruggieri"]
+  ],
+  "publisher": "Journal of neurology",
+  "issn": "1432-1459",
+  "date": "2023-05-05",
+  "abstract": "",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37145156"
+},
+{
+  "id": "omim:601846",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/601846",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/601846. Skipping"
+}
+]

data/STRchive-loci.json

@@ -3047,9 +3047,9 @@
   "typ_age_onset_max": null,
   "novel": "ref",
   "mechanism": "GoF",
-  "mechanism_detail": "The present disease is characterized by dominantly inherited progressively increasing mobilization of aggrephagy at sites of progressive accumulation of a mutated protein, suggesting that the mutation is leading to aggregation, likely through misfolding, exceeding aggrephagic capacity. [@pmid: 32451610]",
+  "mechanism_detail": "The present disease is characterized by dominantly inherited progressively increasing mobilization of aggrephagy at sites of progressive accumulation of a mutated protein, suggesting that the mutation is leading to aggregation, likely through misfolding, exceeding aggrephagic capacity. [@pmid:32451610]",
   "source": [],
-  "details": "Autosomal dominant myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) is characterized by adult onset of slowly progressive skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness, but respiratory and bulbar involvement only rarely occurs. EMG studies show a myopathic process, and myotonia may also be observed. Skeletal muscle biopsy shows myopathic features, rimmed vacuoles, and abnormal subsarcolemmal protein aggregation with activation of the autophagy pathway [@omim: 601846].",
+  "details": "Autosomal dominant myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) is characterized by adult onset of slowly progressive skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness, but respiratory and bulbar involvement only rarely occurs. EMG studies show a myopathic process, and myotonia may also be observed. Skeletal muscle biopsy shows myopathic features, rimmed vacuoles, and abnormal subsarcolemmal protein aggregation with activation of the autophagy pathway [@omim:601846].",
   "omim": ["601846"],
   "prevalence": null,
   "prevalence_details": null,
@@ -3065,10 +3065,10 @@
   "webstr_hg38": ["1380240", "5696269"],
   "webstr_hg19": ["STR_1325788"],
   "tr_atlas": ["TR300995"],
-  "disease_description": "Autosomal dominant myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) is characterized by adult onset of slowly progressive skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness, but respiratory and bulbar involvement only rarely occurs. [@pmid: 32451610",
+  "disease_description": "Autosomal dominant myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) is characterized by adult onset of slowly progressive skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness, but respiratory and bulbar involvement only rarely occurs. [@pmid:32451610",
   "locus_tags": ["sparse_evidence", "anticipation", "length_affects_onset"],
   "disease_tags": [],
-  "references": [],
+  "references": ["pmid:36151849", "pmid:37145156", "pmid:32451610", "omim:601846"],
   "additional_literature": []
 },
 {