Affinage

PTRH2

Peptidyl-tRNA hydrolase 2, mitochondrial · UniProt Q9Y3E5

Length
179 aa
Mass
19.2 kDa
Annotated
2026-06-10
40 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PTRH2 (Bit1) is a mitochondrial protein that functions as an integrin-coupled switch governing the balance between cell survival and anoikis during tissue development and homeostasis (PMID:15006356, PMID:18218778). Upon loss of cell attachment or apoptotic stress, it is released from mitochondria into the cytoplasm—a step driven by PKD phosphorylation of Ser5/Ser87 and antagonized by integrin signaling—where it complexes with the Groucho/TLE protein AES to drive caspase-independent apoptosis (PMID:15006356, PMID:18703509). The Bit1–AES module reciprocally controls TLE1: cytoplasmic Bit1 sequesters TLE1 away from the nucleus to relieve TLE1-mediated transcriptional repression, including derepression of the E-cadherin promoter to suppress epithelial–mesenchymal transition (PMID:22952044, PMID:27655370). In adherent cells, PTRH2 instead promotes survival through a FAK/PI3K/AKT–dependent NF-κB axis that drives Bcl-2 transcription, and it acts as a Golgi-localized negative regulator of ERK-MAPK signaling (PMID:21383007, PMID:20197408, PMID:18218778). Within mitochondria, PTRH2 regulates metabolic and morphological homeostasis: it restrains the deubiquitinase TRABID to promote ubiquitin-dependent turnover of the complex I subunit mt-ND5, limiting complex I activity, ATP output, and Ca2+ overload, and it binds mitofusins MFN1/2 to block their dimerization and suppress mitochondrial fusion (PMID:40496187, PMID:41807994). These activities underlie its developmental roles in skeletal myogenesis and muscle integrity, where it associates with α7β1 integrin at the sarcolemma, and in cerebellar Purkinje cell maturation via the mTOR pathway (PMID:25770104, PMID:28175314, PMID:36219306). Homozygous frameshift mutations in PTRH2 cause infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD), and disease-associated truncation mutants show enhanced MFN binding, mitochondrial fragmentation, and impaired mitophagy (PMID:25574476, PMID:41807994).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2004 High

    Established PTRH2/Bit1 as a mitochondrially-sequestered apoptotic effector, answering how cells couple loss of integrin-mediated attachment to a death signal.

    Evidence Subcellular fractionation, reciprocal Co-IP with AES, gain/loss-of-function apoptosis assays in cell lines

    PMID:15006356

    Open questions at the time
    • Did not define the molecular trigger for mitochondrial release
    • Mechanism by which the Bit1-AES complex executes caspase-independent death unresolved
  2. 2008 High

    Identified the regulatory mechanism for Bit1 mitochondrial release, linking integrin status to PKD-mediated phosphorylation of the localization sequence.

    Evidence In vitro phosphorylation, site-directed mutagenesis of Ser5/Ser87, PKD inhibitors and siRNA in cell lines

    PMID:18703509

    Open questions at the time
    • Did not resolve how Ser5 phosphorylation physically destabilizes mitochondrial retention
    • Other potential regulatory kinases not excluded
  3. 2008 High

    Placed Bit1 genetically upstream of ERK in anoikis signaling, defining it as a negative regulator of ERK with phosphatase-modulating activity.

    Evidence Conditional Ptrh2 KO mouse, MEF ERK phosphorylation and phosphatase assays, ERK knockdown epistasis

    PMID:18218778

    Open questions at the time
    • Direct ERK phosphatase substrate/target not identified
    • Connection between mitochondrial pool and ERK regulation unclear
  4. 2010 Medium

    Demonstrated a second subcellular pool of Bit1 at the Golgi acting as a brake on ERK-MAPK and stress resistance, broadening its role beyond mitochondria.

    Evidence Proteomic analysis of ER/membrane microdomains, chimeric construct and siRNA perturbation, ERK and stress assays

    PMID:20197408

    Open questions at the time
    • Single lab; mechanism of Golgi ERK suppression not biochemically defined
    • Relationship between Golgi and mitochondrial functions unresolved
  5. 2011 Medium

    Revealed the pro-survival face of Bit1 in adherent cells, showing it drives Bcl-2 via FAK/PI3K/AKT-dependent NF-κB activation.

    Evidence shRNA knockdown with rescue, caspase/TUNEL assays, Bcl-2 readouts, FAK/PI3K/AKT inhibitors

    PMID:21383007

    Open questions at the time
    • Direct molecular link from Bit1 to the NF-κB module not defined
    • Single-lab pathway dissection
  6. 2011 Medium

    Identified βA3/A1-crystallin as a trafficking factor required to deliver Bit1 to the Golgi, controlling its anoikis competence in astrocytes.

    Evidence Anoikis assays, immunofluorescence localization, Cryba1 mutant (Nuc1) rat model

    PMID:21993393

    Open questions at the time
    • Trafficking mechanism and direct interaction not characterized
    • Generality beyond astrocytes untested
  7. 2012 Medium

    Defined a reciprocal antagonism between Bit1 and TLE1, explaining how survival signals restrain the apoptotic Bit1-AES complex.

    Evidence TLE1 overexpression/knockdown, Co-IP for Bit1-AES, fractionation, apoptosis assays

    PMID:22952044

    Open questions at the time
    • Stoichiometry and direct vs indirect AES competition not resolved
    • Single lab
  8. 2014 High

    Linked PTRH2 to developmental control of skeletal myogenesis via a Bcl-2/caspase axis, showing non-apoptotic caspase signaling regulates differentiation timing.

    Evidence Ptrh2 KO mouse, C2C12 manipulation, caspase assays, Bcl-2 rescue, muscle histology

    PMID:25770104

    Open questions at the time
    • Direct molecular target by which Bit1 controls Bcl-2 in myoblasts not defined
    • Mitochondrial vs cytoplasmic pool contribution unclear
  9. 2014 Medium

    Connected PTRH2 loss-of-function to a human Mendelian multisystem disease (IMNEPD) and to mTOR-dependent control of cell size.

    Evidence Whole-exome sequencing, mutant mouse and patient fibroblast functional studies, mTOR assays

    PMID:25574476

    Open questions at the time
    • Mechanistic link between peptidyl-tRNA hydrolase activity and mTOR not established
    • Single study
  10. 2016 High

    Identified Bit1 as a transcriptional suppressor of EMT through AES-mediated derepression of the E-cadherin promoter, integrating the AES/TLE1 axis with cancer cell behavior.

    Evidence ChIP for TLE1 promoter occupancy, luciferase reporter, knockdown/overexpression, in vivo metastasis model

    PMID:27655370

    Open questions at the time
    • Whether nuclear Bit1 or cytoplasmic sequestration drives derepression not fully separated
    • Range of TLE1 target genes not surveyed
  11. 2016 Medium

    Showed a physical Bit1-FAK interaction feeding into the FAK-paxillin migration/invasion pathway, complementing the FAK-dependent survival role.

    Evidence Co-IP, shRNA knockdown, microarray, qRT-PCR/Western, xenograft in ESCC cells

    PMID:26956728

    Open questions at the time
    • Direct vs scaffold-mediated FAK binding not resolved
    • Single lab
  12. 2017 Medium

    Placed PTRH2 in a sarcolemmal complex with α7β1 integrin, tying its muscle phenotype to integrin biology in vivo.

    Evidence Co-IP, immunofluorescence, muscle histology, Ptrh2 KO vs α7 integrin KO mouse comparison

    PMID:28175314

    Open questions at the time
    • Direct binding partner within the integrin complex not mapped
    • Functional consequence of the complex mechanistically undefined
  13. 2022 Medium

    Established a cell-autonomous requirement for PTRH2 in cerebellar Purkinje cell maturation and survival via mTOR/S6 signaling, refining the neurological basis of IMNEPD.

    Evidence PC-specific conditional KO mouse, cerebellar histology, ataxia behavior, S6 immunostaining

    PMID:36219306

    Open questions at the time
    • Molecular link from PTRH2 to mTOR/S6 in neurons not defined
    • Single lab
  14. 2025 High

    Defined a mitochondrial metabolic role for PTRH2 as a regulator of the TRABID deubiquitinase, controlling mt-ND5 stability, complex I activity, and Ca2+ homeostasis.

    Evidence IP/MS interactome, CRISPR KO and rescue, ubiquitylation assays, complex I and ATP assays, Ca2+ imaging, KO mouse

    PMID:40496187

    Open questions at the time
    • How PTRH2 mechanistically inhibits TRABID DUB activity unresolved
    • Role of catalytic peptidyl-tRNA hydrolase activity in this function untested
  15. 2025 High

    Identified PTRH2 as a suppressor of mitochondrial fusion via MFN1/2 binding, and showed disease truncation mutants gain enhanced MFN binding causing fragmentation and impaired mitophagy.

    Evidence GoF screening, Co-IP, TurboID, disease-mutant mutagenesis, CRISPR KO, confocal morphology, mito-Keima mitophagy and functional assays

    PMID:41807994

    Open questions at the time
    • Structural basis of MFN dimerization interference not solved
    • How truncation enhances MFN binding mechanistically unclear
  16. 2025 Medium

    Extended the anoikis/apoptosis mechanism to therapeutic contexts, showing EGFR-TKI and oncolytic virus trigger Bit1 cytosolic release and AES/TLE1-dependent apoptosis.

    Evidence Fractionation, viability/apoptosis assays, knockdown/overexpression, RNA-seq of TLE1 targets, drug-tolerant persister and in vivo melanoma models

    PMID:41130364 PMID:41895783

    Open questions at the time
    • How TKI/viral stress signals to Bit1 release mechanistically unknown
    • Relationship to canonical MOMP/cytochrome C release only partially defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How PTRH2's enzymatic peptidyl-tRNA hydrolase activity relates to its diverse signaling, mitochondrial metabolic, and morphological functions remains unresolved.
  • No discovery links catalytic activity to the integrin/anoikis, TRABID, or MFN functions
  • Integration across mitochondrial, Golgi, and cytoplasmic pools lacks a unifying mechanism
  • No structural model of substrate or partner complexes

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 2 GO:0140110 transcription regulator activity 2 GO:0140096 catalytic activity, acting on a protein 1
Localization
GO:0005739 mitochondrion 3 GO:0005794 Golgi apparatus 2 GO:0005829 cytosol 2 GO:0005886 plasma membrane 1
Pathway
R-HSA-162582 Signal Transduction 3 R-HSA-5357801 Programmed Cell Death 3 R-HSA-1266738 Developmental Biology 2 R-HSA-1430728 Metabolism 1 R-HSA-1852241 Organelle biogenesis and maintenance 1
Partners
AESFAKITGA7MFN1MFN2MT-ND5TLE1TRABID
Complex memberships
Bit1-AES complexα7β1 integrin complex

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2004 PTRH2/Bit1 is a mitochondrial protein that is released into the cytoplasm during apoptosis, where it forms a complex with AES (a small Groucho/TLE protein) to induce caspase-independent apoptosis; integrin-mediated cell attachment to fibronectin counteracts this apoptotic effect. Subcellular fractionation, Co-immunoprecipitation, overexpression and knockdown in cell lines, apoptosis assays Cell High 15006356
2008 Protein kinase D (PKD) phosphorylates two serine residues (Ser5 and Ser87) in cytoplasmic PTRH2/Bit1, increasing its apoptotic activity; phosphorylation of Ser5 in the mitochondrial localization sequence promotes Bit1 release from mitochondria to cytoplasm. Integrin-mediated cell attachment inhibits PKD activity, thereby suppressing Bit1-mediated anoikis. In vitro phosphorylation assays, site-directed mutagenesis, pharmacological PKD inhibitors, siRNA knockdown, overexpression of constitutively active PKD The Journal of biological chemistry High 18703509
2008 PTRH2/Bit1 knockout mice show increased ERK phosphorylation and decreased ERK phosphatase activity; Bit1 negatively regulates ERK signaling, and partial knockdown of ERK reversed the anoikis resistance of Bit1-null cells, placing Bit1 upstream of ERK in anoikis signaling. Conditional knockout mouse (Cre-LoxP), MEF culture, ERK phosphorylation assays, Erk knockdown epistasis Proceedings of the National Academy of Sciences of the United States of America High 18218778
2011 In adherent cells, PTRH2/Bit1 promotes cell survival through activation of the NF-κB pathway, increasing phospho-IκB levels and subsequent Bcl-2 gene transcription; this pro-survival function is dependent on focal adhesion kinase (FAK), PI3K, and AKT. shRNA knockdown, re-expression rescue, caspase-3 activation assays, TUNEL staining, Bcl-2 reporter/Western blot, pharmacological inhibition of FAK/PI3K/AKT The Journal of biological chemistry Medium 21383007
2011 βA3/A1-crystallin is required for trafficking of PTRH2/Bit1 to the Golgi; loss of βA3/A1-crystallin in astrocytes prevents Bit1 from reaching the Golgi, suppressing anoikis. In vitro anoikis induction, immunofluorescence/subcellular localization, Cryba1 mutant rat (Nuc1) model Cell death & disease Medium 21993393
2010 PTRH2/Bit1 localizes to the Golgi complex (in addition to mitochondria) and acts as a negative regulator of ERK-MAPK signaling from the Golgi; perturbation of BIT1 oligomerization/Golgi localization via a chimeric construct or BIT1 silencing led to enhanced ERK signaling and improved stress resistance. Proteomic analysis of ER membrane microdomains, chimeric protein approach, siRNA silencing, ERK signaling assays, stress resistance assays Journal of cell science Medium 20197408
2012 TLE1 inhibits the PTRH2/Bit1 anoikis pathway by sequestering the pro-apoptotic Bit1 partner AES in the nucleus, reducing Bit1-AES complex formation; conversely, cytoplasmic Bit1 induces cytoplasmic translocation and degradation of nuclear TLE1. Overexpression and knockdown of TLE1, Co-immunoprecipitation for Bit1-AES complex, subcellular fractionation, apoptosis assays Molecular cancer research : MCR Medium 22952044
2014 PTRH2/Bit1 controls skeletal myogenesis through a caspase-mediated signaling pathway; Bit1-null mice exhibit hypotrophic myofibers and premature muscle differentiation; Bit1-null myoblasts show increased caspase 9 and caspase 3 levels without apoptosis, and reduced Bcl-2; re-expression of Bcl-2 rescued premature differentiation in Bit1-null cells, placing Bit1 upstream of Bcl-2/caspase regulation during myogenesis. Ptrh2 knockout mouse, C2C12 knockdown/overexpression, caspase activity assays, Bcl-2 rescue experiments, muscle histology Journal of cell science High 25770104
2014 Homozygous frameshift mutations in PTRH2 cause infantile-onset multisystem disease (IMNEPD); PTRH2 is highly expressed in developing brain, is a key determinant of cell survival during tissue development, and is linked to the mTOR pathway controlling cell size, demonstrated in mutant mice and patient fibroblasts. Whole-exome sequencing, Sanger sequencing, mutant mouse analysis, patient fibroblast functional studies, mTOR pathway assays Annals of clinical and translational neurology Medium 25574476
2016 PTRH2/Bit1 physically interacts with FAK protein; Bit1 knockdown in esophageal squamous cell carcinoma cells decreased FAK and paxillin expression at both mRNA and protein levels, identifying the FAK-paxillin pathway as a downstream effector of Bit1 in regulating cell migration and invasion. Co-immunoprecipitation (Bit1-FAK interaction), shRNA knockdown, gene microarray, Western blot, qRT-PCR, xenograft model Molecular cancer Medium 26956728
2016 PTRH2/Bit1 inhibits EMT in lung cancer by upregulating E-cadherin transcription through the AES co-activator, which blocks TLE1-mediated repression of the E-cadherin promoter; Bit1 decreases TLE1 occupancy at the E-cadherin promoter as shown by chromatin immunoprecipitation. siRNA/shRNA knockdown, ectopic overexpression, qRT-PCR, luciferase reporter assay, chromatin immunoprecipitation (ChIP), in vivo experimental metastasis model PloS one High 27655370
2017 PTRH2 associates in a complex with α7β1 integrin at the sarcolemma in normal skeletal muscle; PTRH2 expression is decreased in α7 integrin null muscle, and Ptrh2 knockout mouse muscle recapitulates progressive muscular dystrophy-like pathology. Co-immunoprecipitation (Ptrh2-α7β1 integrin complex), immunofluorescence, muscle histology (H&E, creatine kinase assay, fibrosis staining), Ptrh2 KO and α7 integrin KO mouse comparison Human molecular genetics Medium 28175314
2022 Loss of PTRH2 specifically in Purkinje cells leads to reduced ribosomal protein S6 levels (a readout of mTOR pathway activity), PC atrophy with stunted dendrites, and progressive PC loss, establishing a cell-autonomous requirement for PTRH2 in PC maturation and survival via the mTOR pathway. PC-specific Ptrh2 conditional knockout mouse (Ptrh2ΔPC), cerebellar histology, gait/ataxia behavioral assays, immunostaining for S6 and PC markers Cerebellum (London, England) Medium 36219306
2025 Mitochondrial PTRH2 interacts with the deubiquitinase TRABID and the respiratory complex I subunit mt-ND5; PTRH2 regulates TRABID's ability to deubiquitylate mt-ND5 — in the absence of PTRH2, TRABID aberrantly deubiquitylates mt-ND5, increasing its stability, which promotes complex I activity, elevated ATP production, and mitochondrial Ca2+ overload under stress conditions. Re-expression of mitochondrial PTRH2 blocks TRABID DUB activity toward mt-ND5, leading to mt-ND5 polyubiquitylation and proteasomal degradation. Co-immunoprecipitation/mass spectrometry proteomics, CRISPR/Cas9 knockout, re-expression rescue, ubiquitylation assays, complex I activity assay, ATP production measurement, mitochondrial Ca2+ imaging, PTRH2 KO mouse immunostaining PNAS nexus High 40496187
2025 PTRH2 interacts with MFN1/2 (mitofusins) and interferes with MFN dimerization, thereby suppressing mitochondrial fusion; disease-associated PTRH2 truncation mutants (A90fs, W108*) show enhanced binding to MFN1/2, causing mitochondrial fragmentation, perinuclear aggregation via FKBP8 recruitment, and impaired mitophagy. Gain-of-function screening, co-immunoprecipitation, TurboID proximity labeling, site-directed mutagenesis of PTRH2 disease mutants, CRISPR/Cas9 KO, confocal microscopy of mitochondrial morphology, mito-Keima mitophagy assay, ATP/membrane potential/ROS assays Molecular medicine (Cambridge, Mass.) High 41807994
2025 In EGFR-TKI-sensitive lung cancer cells, TKI treatment triggers cytosolic release of mitochondrial outer membrane-associated PTRH2/Bit1 prior to cytochrome C release and independently of full MOMP; released Bit1 forms a complex with AES in the cytosol, causing nuclear exclusion and sequestration of TLE1, thereby activating apoptosis. Subcellular fractionation, viability and apoptosis assays, siRNA/shRNA knockdown, ectopic overexpression, RNA-sequencing of TLE1-regulated genes, drug-tolerant persister cell models Anticancer research Medium 41895783
2025 Newcastle disease virus (NDV) infection promotes translocation of PTRH2/Bit1 from mitochondria to cytoplasm in tumor cells, mirroring suspension-induced anoikis; overexpression of Bit1 in tumor cells accelerated NDV-mediated inhibition of melanoma metastasis and growth in vivo. Subcellular fractionation, immunofluorescence localization, Bit1 overexpression in vivo mouse melanoma model, viral infection assays Virologica Sinica Medium 41130364

Source papers

Stage 0 corpus · 40 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2004 A mitochondrial protein, Bit1, mediates apoptosis regulated by integrins and Groucho/TLE corepressors. Cell 144 15006356
2011 Bit-1 mediates integrin-dependent cell survival through activation of the NFkappaB pathway. The Journal of biological chemistry 41 21383007
2012 TLE1 is an anoikis regulator and is downregulated by Bit1 in breast cancer cells. Molecular cancer research : MCR 40 22952044
2011 βA3/A1-Crystallin controls anoikis-mediated cell death in astrocytes by modulating PI3K/AKT/mTOR and ERK survival pathways through the PKD/Bit1-signaling axis. Cell death & disease 40 21993393
2008 Anoikis effector Bit1 negatively regulates Erk activity. Proceedings of the National Academy of Sciences of the United States of America 38 18218778
2007 Induction of Anoikis following myoblast transplantation into SCID mouse muscles requires the Bit1 and FADD pathways. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 37 17511679
2016 Bit1 knockdown contributes to growth suppression as well as the decreases of migration and invasion abilities in esophageal squamous cell carcinoma via suppressing FAK-paxillin pathway. Molecular cancer 36 26956728
2014 Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Annals of clinical and translational neurology 35 25574476
2014 The anoikis effector Bit1 displays tumor suppressive function in lung cancer cells. PloS one 30 25003198
2008 Protein kinase D is a positive regulator of Bit1 apoptotic function. The Journal of biological chemistry 30 18703509
2013 Bit1 in anoikis resistance and tumor metastasis. Cancer letters 29 23376255
2011 Metastasis of tumor cells is enhanced by downregulation of Bit1. PloS one 27 21886829
2020 PTRH2: an adhesion regulated molecular switch at the nexus of life, death, and differentiation. Cell death discovery 24 33298880
2015 Bit-1 is an essential regulator of myogenic differentiation. Journal of cell science 18 25770104
2017 Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. American journal of medical genetics. Part A 16 28328138
2016 The Anoikis Effector Bit1 Inhibits EMT through Attenuation of TLE1-Mediated Repression of E-Cadherin in Lung Cancer Cells. PloS one 15 27655370
2013 Implications of Bit1 and AIF overexpressions in esophageal squamous cell carcinoma. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 15 23955799
2017 PTRH2 gene mutation causes progressive congenital skeletal muscle pathology. Human molecular genetics 13 28175314
2017 Downregulation of Bit1 expression promotes growth, anoikis resistance, and transformation of immortalized human bronchial epithelial cells via Erk activation-dependent suppression of E-cadherin. Biochemical and biophysical research communications 12 29170133
2020 Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD. Brain & development 11 33092935
2010 MAPK scaffolding by BIT1 in the Golgi complex modulates stress resistance. Journal of cell science 11 20197408
2021 A novel PTRH2 missense mutation causing IMNEPD: a case report. Human genome variation 10 34112751
2021 A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia. Cureus 8 33717719
2014 Estrogen decreases anoikis of ovarian cancer cell line Caov-3 through reducing release of Bit1. DNA and cell biology 8 25211327
2016 Bit1-a potential positive regulator of epithelial-mesenchymal transition in lens epithelial cells. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 6 27122244
2020 Bit1 Silencing Enhances the Proliferation, Migration, and Invasion of Glioma Cells Through Activation of the IL-6/STAT3 Pathway. OncoTargets and therapy 5 32273719
2009 Monoclonal antibodies against human bit1, an apoptosis-associated mitochondrial protein. Hybridoma (2005) 5 19519243
2017 Bit1 Regulates Cell Migration and Survival in Oral Squamous Cell Carcinoma. Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 4 28419846
2022 PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients. Cerebellum (London, England) 3 36219306
2024 A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient. Oman medical journal 2 38510576
2019 Bit1-a novel regulator of astrocyte function during retinal development: proliferation, migration, and paracrine effects on vascular endothelial cell. Human cell 2 31368047
2025 Oncolytic Newcastle disease virus promotes tumor cell death via the anoikis effector Bit1 translocation. Virologica Sinica 1 41130364
2022 Bit1 is involved in regulation between integrin and TGFβ signaling in lens epithelial cells. Cell cycle (Georgetown, Tex.) 1 35737738
2017 Preliminary evaluation for Bit1 as a potential biomarker for squamous cell carcinoma and adenocarcinoma of esophagus. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 1 28488526
2026 Pathogenic roles of the IMNEPD-associated PTRH2 mutants in aggravating mitochondrial dynamics and its rescue. Molecular medicine (Cambridge, Mass.) 0 41807994
2026 BIT1 as an Effector of EGFR-TKI-induced Apoptosis via TLE1 Inhibition in Lung Adenocarcinoma Cells. Anticancer research 0 41895783
2026 Case Report: ALK-positive histiocytosis with a novel PTRH2::ALK fusion masquerading as a liver abscess in an infant. Frontiers in immunology 0 42136678
2025 Bit1 promotes the progression of gastric cancer by facilitating epithelial-mesenchymal transition and alleviating apoptosis. Medical oncology (Northwood, London, England) 0 40455389
2025 Mitochondrial PTRH2 controls the deubiquitinase TRABID to regulate mt-ND5 stability and metabolism. PNAS nexus 0 40496187
2017 [Bit1 mediates the malignant behaviors in pancreatic cancer and its potential clinical significance]. Zhonghua wai ke za zhi [Chinese journal of surgery] 0 29136735

Missed literature

Know a paper Affinage missed for PTRH2? Flag it for the maintainers and the community.

No submissions yet.