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PubMed2026

Genomic evidence that Shouchella miscanthi (Shin et al. 2020) Joshi et al. 2022 is a later heterotypic synonym of Shouchella hunanensis (Patel and Gupta 2020) Joshi et al. 2022.

Shouchella hunanensis DSM 23008T and Shouchella miscanthi AK13T were originally described from forest soil and the rhizosphere of Miscanthus sacchariflorus, respectively. The two strains share closely similar phenotypic properties, and their 16S rRNA gene sequences show 99.5% similarity. Phylogenetic analysis of all 16S rRNA gene copies revealed copy-dependent placements, whereas the phylogenomic analysis placed the two type strains and three additional genomes in a strongly supported, short-branched cluster. Eight 16S rRNA gene copies were identified in each genome, with detectable intragenomic heterogeneity, particularly in AK13ᵀ. Pairwise average nt identity among the two type-strain genomes and three additional publicly available genomes ranged from 99.0% to 99.3%, clearly above the accepted species boundary. The digital DNA-DNA hybridization value between strains S. hunanensis DSM 23008T and S. miscanthi AK13T was 92.5%. On the basis of the combined phylogenetic, genomic and phenotypic evidence, S. miscanthi (Shin et al. 2020) Joshi et al. 2022 is proposed as a later heterotypic synonym of S. hunanensis (Patel and Gupta 2020) Joshi et al. 2022.

Phylogeny↗

PubMed1976

Alhazen (iln-al Haitham, Abu ibn Al Haithum, or Iben Al Haithum).

Explore the source record for details and available documents.

Famous Persons↗

PubMed1975

[Characteristics of the scutellar bristle pattern in Drosophila melanogaster mutants al, h and al; h].

The object of this study was the distribution of macrochaetae and microchaetae on the scutellum of Drosophila melanogaster in wild-type individuals and in three mutant genotypes: h/h, al/al and al; h/al; h. The mutation h (hairy) causes the appearance on the scutellum of extra microchaetae with a definite distribution pattern. The mutation al (aristaless) changes the size and the shape of scutellum and causes the shift of the posterior scutellar bristles. It is shown by the study of double homozygotes al; h/al; h, that this bristle can be shifted into the region occupied by one of microchaetae. The results obtained are considered in the light of the prepattern hypothesis. An assumption is made about the possible three-component constitution of the system of pattern formation.

Animals↗

PubMed2025

Redefining ALS: Large-scale proteomic profiling reveals a prolonged pre-diagnostic phase with immune, muscular, metabolic, and brain involvement.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with a largely unknown duration and pathophysiology of the pre-diagnostic phase, especially for the common non-monogenic form. METHODS: We leveraged the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort with up to 30 years of follow-up to identify incident ALS cases across five European countries. Pre-diagnostic plasma samples from initially healthy participants underwent high-throughput proteomic profiling (7,285 protein markers, SomaScan). Cox proportional hazards models based on 4,567 participants (including 172 incident ALS cases) were used to identify protein biomarkers associated with future ALS diagnosis. Top results were indirectly validated in two independent case-control studies of prevalent ALS (n=417 ALS, 852 controls). Functional annotation included cross-disease comparisons, gene set and tissue enrichment testing, organ-specific proteomic clocks, and the application of large-language models (LLM). FINDINGS: Five proteins (SECTM1, CA3, THAP4, KLHL41, SLC26A7) were identified as significant pre-diagnostic ALS biomarkers (FDR=0.05), detectable approximately two decades before diagnosis. Of these, all except SECTM1 were indirectly validated in independent cohorts of prevalent ALS cases, supporting their clinical significance. Additionally, 22 nominally significant (p<0.05) pre-diagnostic biomarkers were FDR-significant in prevalent ALS with consistent effect directions. Cross-disease comparisons with pre-diagnostic Parkinson's and Alzheimer's disease suggested a largely specific pre-diagnostic ALS biomarker signature. Gene ontology and tissue enrichment highlighted early involvement of immune, muscle, metabolic, and digestive processes. Furthermore, analyses of proteomic clocks revealed accelerated aging in brain-cognition, immune, and muscle tissues before clinical diagnosis. Druggability and LLM analyses revealed possible therapeutic targets and novel strategies, emphasizing translational relevance. INTERPRETATION: Our study provides first evidence of ultra-early molecular changes in common ALS up to two decades prior to clinical onset, mainly affecting immune, muscle, metabolic, digestive, and cognitive systems. Our study nominates several compelling candidates for risk stratification studies and novel therapeutic targets for early intervention. FUNDING: Clinical Research in ALS and Related Disorders for Therapeutic Development (CreATe) Consortium, Cure Alzheimer's Fund, Michael J Fox Foundation, Interdisciplinary Centre for Clinical Research, University Münster.

Journal Article↗

PubMed2025

Redefining ALS: Large-scale proteomic profiling reveals a prolonged pre-diagnostic phase with immune, muscular, metabolic, and brain involvement.

Journal Article↗

PubMed2025

Antisense oligonucleotide depletion of CCDC146 is a broad-spectrum therapeutic strategy for ALS.

Amyotrophic lateral sclerosis (ALS) is a heritable and incurable disease defined by the degeneration of motor neurons (MNs), yet the genetics of ALS remain partially understood. Using a genomic deep learning-powered whole-genome analysis of 6,715 ALS patients, we identify four rare noncoding variants associated with patient survival, including chr7:76,009,472:C>T which is linked to a 70.6% reduction in survival. Genetic editing of this variant into iPSC-derived MNs increases CCDC146 expression and exacerbates ALS-specific phenotypes including TDP-43 mislocalization. We reveal that CCDC146 was located within the basal body of primary cilia in human MNs, and that cilia structure and function is impaired by CCDC146 overexpression but is restored by its depletion. Suppressing CCDC146 using an antisense oligonucleotide (ASO) completely rescues ALS-specific survival defects in neurons derived from both sporadic and familial patients, and it extends survival and reverses TDP-43 pathology in an aggressive ALS mouse model. Taken together, CCDC146 is a new modifier of ALS survival that acts via the primary cilia of MNs. ASO targeting of CCDC146 is a potential therapeutic approach for both sporadic and genetic forms of ALS, particularly because congenital absence of CCDC146 is well tolerated.

Journal Article↗

PubMed1977

Studies on epidemiological, clinical, and etiological aspects of ALS disease in Sardinia, Southern Italy.

This investigation was conducted to clarify the epidemiology of ALS disease in Sardinia. During the years 1965-1974, the average annual incidence was found to be 0.64/100,000 inhabitants. On prevalence day, October 24th, 1974, the prevalence rate was 1.56/100,000 inhabitants. A significant male predominance was found, the average annual incidence rates for men and women being 0.88 and 0.40, respectively. The peak in both sexes was reached between 60 and 69 years. ALS distribution in the study area was uniform but its occurrence was significantly higher among agricultural workers (5.28/100,000). ALS started on average at 56.58 years and its duration was 2.5 years, being significantly longer in patients under 40-years-old. The distribution of the various clinical forms was: 66 per cent conventional forms, 20 percent bulbar and 14 per cent pseudo-polyneuritic. In the bulbar type, a female predominance was found. About 96 percent of cases were sporadic and 4 per cent familial. Familial cases presented no difference from sporadic cases. Trauma was present in 10.5 percent of the cases and gastrointestinal disfunction in 13 per cent. This probably reflects some relationship between trauma and ALS, and between malnutrition and ALS. No combination of ALS, dementia and parkinsonism was observed. Dementia was associated with ALS in four cases and Parkinson's disease in one case, separately. The combination of other disease states with ALS in the present study may be simple coincidence.

Adolescent↗

PubMed1977

Current status of the search for virus in amyotrophic lateral sclerosis (ALS).

Clinicians have noted resemblance between ALS with predominantly lower motor involvement and a chronic type of poliomyelitis. Occasional cases of ALS show lymphocytic infiltrations in the neuropathology. Cytoplasmic inclusion bodies as well as possible transmission of ALS to the monkey, were noted by Soviet investigators. Major questions about the latter remain, but inclusion bodies have been seen in cases outside the USSR, and search for a virus has been pursued. So far, efforts at culture, including the technique of co-cultivation, have not been successful in 3 different laboratories using material from ALS autopsied within 2 hours of death. Nor has such material and specimens from other cases produced transmissible disease in animals of laboratories where kuru, Jakob's disease and SSPE have been transmitted. Study of serum antibodies has also been negative. These negative culture, transmission and antibody studies do not exclude a viral etiology: in kuru, for example, many years passed before transmission was demonstrated, which remains the only evidence of kuru's infectivity. Evidence of an immunologic disorder in ALS has been obtained from kidney biopsies, the lack of any clinical benefit from immunosuppression may indicate that the kidney finding reveals a response to infection, though whether viral or even relevant is unknown. Two recent ALS cases will be illustrated in which virus-like particles were demonstrated post mortem by electronmicroscopy. In one, myxovirus-like tubules were seen mainly in motor neurons; in the other, picorna-virus-like crystals were found in skeletal muscles. Different viruses can cause identical disease, but 2 different viruses in different sites in ALS also suggest that at least one type of particle is an adventitious finding of no general significance. An additional impetus to continue the search is the slowly progressive type C-virus myelitis in wild mice. This disease has many dissimilarities to ALS, including different morphology of the virus, but may provide a model for slow-virus amyotrophy.

Adult↗

PubMed1977

The effect of timing of skin grafts on subsequent survival in ALS-treated, marrow-infused mice.

It has previously been shown that the survival of C3H/He skin grafts can be prolonged on ALS-treated (C57 x A)F1 mice by the injection of C3H/He bone marrow cells 7 days after grafting. Experiments have now been done to study the influence of timing of the skin graft on its subsequent survival. Single grafts were placed either before or after marrow was given. Paired grafts on the same animal were also studied, one placed before and one after marrow was given. Grafts placed before marrow was given, whether single or paired, showed equal and significant prolongation while grafts placed after marrow was given showed only slight prolongation compared with ALS controls. Paired grafts showed distinctly different survival curves depending on their time of placement in relation to injection of marrow. The pattern of graft survival suggests that the graft prolongation achieved is attributable to a mechanism similar to enhancement. Experiments were also done to see whether a state of preexisting immunity to the skin graft donor induced by the injection of marrow could be manipulated to achieve prolonged graft survival. (C57 x A)F1 mice were treated with ALS, given injections of C3H/He marrow, and grafted 56 days later with C3H/He skin either with or without additional ALS at the time of grafting. If no ALS was given grafts were rejected in accelerated fashion, indicating that the previous injection of marrow had sensitized the recipient. With additional ALS, the prolongation of graft survival achieved far exceeded that seen using our standard protocol of skin grafting a week before marrow is given. This represents one of the first demonstrations of positive alteration of a preexisting state of immunity to achieve graft prolongation which exceeds that expected by giving ALS immunosuppression alone to a presensitized animal.

Animals↗

PubMed2026

Preclinical evaluation of AL-001, a gene therapy for wet age-related macular degeneration.

BACKGROUND: Frequent intravitreal administration of antivascular endothelial growth factor Vascular endothelial growth factor agents remains a major limitation in the management of wet age-related macular degeneration (wAMD). This study evaluated whether suprachoroidal delivery of an engineered recombinant adeno-associated viral (rAAV)-aflibercept vector could achieve sustained, targeted expression with improved efficacy and safety compared with intravitreal administration. METHODS: AL-001, an engineered rAAV vector expressing aflibercept, was developed and characterized. Its expression profile was first assessed in New Zealand white rabbits following suprachoroidal space (SCS) injection. Efficacy, pharmacokinetics, and safety were then evaluated in a nonhuman primate model of laser-induced choroidal neovascularization (CNV), comparing SCS and intravitreal (IVT) administration routes. RESULTS: AL-001 efficiently expressed aflibercept in relevant ocular cells in vitro. In rabbits, SCS administration produced sustained aflibercept levels in ocular tissues. In the nonhuman primate CNV model, a single SCS injection of AL-001 showed favorable efficacy to IVT injection and a notable mild inflammatory response. At week 4, grade IV lesion incidence was 0% (0/48) after SCS administration versus 14.3% (6/42) after IVT administration (absolute difference, -14.3 percentage points; 95% CI, 3.7%-27.8%; P = 0.0258). Throughout follow-up, mean leakage area and grade IV lesion incidence remained 0 with SCS, versus IVT peaks of approximately 0.3 mm2 and 33.0%, respectively, declining to 0.03 mm2 and 2.0% by day 100. Both the medium and high doses decreased pathological vascular leakage and subretinal hyperreflective material. Vector administration preceded laser-induced CNV modeling, demonstrating that sustained intraocular aflibercept expression in the retina and choroid provided durable antiangiogenic protection. Pharmacokinetic analysis confirmed distinct ocular exposure profiles between routes, with viral genomes confined predominantly to the injected eye and no significant systemic accumulation. AL-001 was well tolerated, without sustained intraocular pressure elevation or severe ocular inflammation, and only mild-to-moderate treatment-emergent adverse events. Low pre-existing anti-AAV2 immunity and time-dependent neutralizing antibody responses postdosing, informing a translational model for patient stratification and redosing feasibility. CONCLUSION: Suprachoroidal administration of AL-001 is well tolerated and provides durable, targeted aflibercept expression with pronounced antiangiogenic efficacy. These results support AL-001 as a promising, long-acting therapeutic candidate for wAMD.

AAV↗

PubMed1976

Antilymphocyte serum: studies of the specificity of the rosette-inhibiting antibody in rabbit anti-mouse ALS.

In an investigation into the characteristics of the rosette-inhibiting antibody of antilymphocyte serum (ALS), rabbit anti-mouse ALS were assayed for antibodies against lymphoid cells from the spleen, lymph nodes and thymus of Quackenbush (Q) mice, and against spleen cells from athymic nude mice. The lymphagglutinating and lymphocytotoxic titres were similar with both Q and nude cells, and the titres showed no significant correlation with skin graft survival times in mice receiving the corresponding ALS. A significant depletion of peripheral blood lymphocytes occurred in animals receiving both an immunosuppressive and a non-immunosuppressive ALS, suggesting that the antibodies involved in this depletion are not significant in determining the immunosuppressive activity of ALS. In contrast, the rosette inhibition titres showed a significant correlation with graft survival times in the results obtained in tests using Q spleen, lymph node and thymus cells. No inhibition of rosette formation was obtained when using nude spleen cells. However, the numbers of spontaneous rosettes formed by both the mixed B and T cell populations from Q spleen were not significantly different from the numbers formed by the largely B cell population from nude spleen. These results confirm that the antibodies of ALS which are responsible for both the in vitro inhibition of spontaneous rosette function and the in vivo suppression of graft rejection are specifically directed against a T cell population, and it is suggested that the antibodies are related if not identical.

Absorption↗

PubMed1976

Effect of antilymphocyte serum (ALS) on shock in rats.

Effects of treatment with rabbit antirat anti-lymphocyte serum and globulin (ALS and ALG) on shock survival were studied in Sprague-Dawley derived male rats. Because of their known cytotoxic capability, it was postulated that lymphocytes might play a role in the pathogenesis of shock and that suppression of lymphocyte function by ALS/ALG treatment should then protect against shock. Shock models used were tourniquet, endotoxin, and hemorrhagic shock. Protection against tourniquet shock was found for ALS made against thymocytes but not for ALS against spleen cells or lymph node cells. The shock-protective factor was found in the ALG-containing serum fraction but not in the primarily albumin fraction. No significant protection was found for ALS treatment against either endotoxin or hemorrhagic shock. ALS effects on blood cell counts, reticulo endothelial system clearance, and inflammation were studied to help identify effects of ALS on shock survival. It was concluded from these studies that thymic or thymus-processed lymphocytes could play a role in the pathogenesis of shock but that multiple effects of ALS/ALG treatment necessitate further studies to elucidate any role for lymphocytes in shock.

Animals↗

PubMed1975

[Use of the immune tolerance induction in the production of an antilymphocyte serum (ALS) free of antibodies against serum proteins].

The possibility has been investigated of a direct gain of ALS free of undesirable antibodies against serum proteins by inducing immunologic tolerance in productive animals (pigs). Preliminary experiments made with tolerogenic amounts of 10 and 50 ml of sera and with immunization by the serum alone proved applicability of this method. Electrophoresis showed antibodies against 6 to 7 and 2 to 3 fractions in animals tolerated with 10 and 50 ml respectively, compared to 18 to 20 fractions in the control group, which was not tolerated. This has been confirmed when preparing ALS in practice, where the toleration was carried out with 25 ml of serum or with the same amount of serum with the addition of hemoglobin and immunization by lymphocytes isolated from peripheral blood. Final ALS of untolerated animals contained antibodies against 7 to 8 fractions, whereas that of experimental group tolerated with serum and Hb was free of antibodies against serum protein, hemoglobin included. ALS of the group tolerated with normal serum contained only antibodies against hemoglobin. In vitro tests (i.e. lymphoagglutination t., lymphocytotoxicity t., rosette inhibition t.) proved that by inducing tolerance towards serum protein the activity of ALS was in no was affected. According to the results this method can be employed not only for the preparation of ALS, but also for other purposes, such as preparation of monovalent antisera for immunoelectrophoresis.

Agglutinins↗

PubMed2026

Daratumumab monotherapy for relapsed AL amyloidosis: a single center retrospective analysis.

PURPOSE: Treatment of relapsed AL amyloidosis remains challenging as patients frequently suffer from severe organ dysfunctions. Daratumumab, a cornerstone drug in multiple myeloma and newly diagnosed AL amyloidosis, has also shown promise in relapsed AL amyloidosis. MATERIALS AND METHODS: To assess the efficacy of daratumumab, we conducted a retrospective study of 40 patients who received daratumumab monotherapy in our prospective amyloidosis cohort. RESULTS: The median age of the cohort was 67 years, and 31 patients were classified as stage III/IV by the Mayo 2012 guidelines and 32 patients as stage IIIa/IIIb by the European staging system. The overall hematologic and cardiac response rates were 72.5% and 42.4%, respectively. With median follow-up duration of 26.9 months, the estimated median progression-free survival was 21.9 months. Deep hematologic (p < 0.001) and cardiac response (p = 0.001) were associated with prolonged progression free survival. The duration of hematologic/cardiac responses were 26.2 months and 27.8 months, respectively. The median overall survival was 30.9 months. Treatment was well tolerated, as with 3 patients experiencing grade 3-4 hematologic adverse events and 8 experiencing grade 3-4 non-hematologic adverse events. DISCUSSION: Our findings suggest that daratumumab monotherapy provides rapid and durable responses and is generally well tolerated in patients with relapsed AL amyloidosis.

AL amyloidosis↗

PubMed1976

[Immune status of indefinitely surviving rat renal allograft recipients after short course of ALS-treatment Detection of a serum blocking factor by allorosette formation inhibition test (author's transl)].

53 LBNF1 kidneys were grafted into L-rats. 24 untreated recipients served as control and survived 16.1 +/- 1.7 days. 14 recipients were treated with 4 ml alloantiserum (ADS) each, and the other 15 animals with 4 ml ALS each. 9 and 10 of these 14 and 15 animals survived for more than 4 months. We performed GvH-reaction with spleen cells of these 19 animals. It showed normal cellular immune response. After splenectomy first donor specific skin was transplanted, 18 days later second skin of same origin (LBNF1) and 18' days after third party skin (LBufF1). The first grafts survived 13.1 +/- 1.9 days in the recipients of ADS treatment and 12.2 +/- 1.2 days in the recipients of ALS. Second skin grafts were rejected delayed in the former recipients as the first grafts, in the later more accelerated than the first grafts. The third grafts survived as the controls. Before and after skin grafting we could not detect lymphocytotoxin and hemagglutinin. The sera of animals with ADS therapy inhibited the spontaneous allorosette formation to 46.0 +/- 4.4% and of ALS therapy 37.7 +/- 9.2%. Our results suggest that after ALS treatment blocking antibodies were produced in the recipients and they cause the enhancement of kidney allograft.

Animals↗

PubMed2026

JP1 peptide modulates oxidative stress and autophagy via Keap1-Nrf2-ARE in ALS model mice.

BACKGROUND: The simultaneous modulation of oxidative stress and autophagy represents a potential therapeutic strategy for amyotrophic lateral sclerosis (ALS), yet agents capable of coordinately regulating both processes remain scarce. The Keap1‑Nrf2‑ARE pathway serves as a critical hub linking redox homeostasis and autophagic regulation, making it an attractive target for ALS intervention. JWA is a stress‑responsive protein involved in cellular protection against oxidative injury, and its neuroprotective effects have been shown to depend on activation of the MEK/ERK‑Nrf2 axis. JP1 is a functional oligopeptide derived from the JWA protein that has been engineered to cross the blood-brain barrier and specifically target integrin αVβ3. Based on the link between JWA and Nrf2 signaling, we hypothesized that JP1 activates the Keap1‑Nrf2‑ARE pathway to coordinate antioxidant defense and autophagic clearance. Here, we evaluated this hypothesis in the SOD1‑G93A mouse model, a well‑established transgenic model of familial ALS, and elucidated the underlying mechanisms. METHODS: We evaluated the efficacy of JP1 in the SOD1-G93A mice model using behavioral phenotyping and survival analysis. The coordinated mechanism was investigated in spinal cord tissues by profiling the Keap1-Nrf2-ARE pathway and oxidative stress, quantifying autophagic flux (by Western blotting and transmission electron microscopy) and neuronal apoptosis, and evaluating histology (by Nissl staining and immunofluorescence). Integrated transcriptomic and proteomic analyses further elucidated the global molecular landscape underlying the therapeutic effects of JP1. RESULTS: JP1 treatment ameliorated motor deficits and extended survival in SOD1-G93A mice without adversely affecting liver or kidney function. JP1 crossed the blood-brain barrier, targeted motor neurons expressing integrin αVβ3, and activated the ERK pathway. This promoted Keap1/Cul3 degradation and Nrf2 nuclear translocation, thereby activating the Keap1-Nrf2-ARE pathway to alleviate oxidative stress. Concurrently, JP1 restored autophagic flux, increased autophagic activity, attenuated motor neuron injury, suppressed neuronal apoptosis, and preserved neuronal structural integrity. The Nrf2 inhibitor ML385 reversed the protective effects of JP1 on survival, motor function, autophagy, oxidative stress, and neuronal apoptosis, which confirms that JP1 acts via the Nrf2 pathway. CONCLUSIONS: JP1 acts as a promising coordinator of antioxidant and autophagic processes by targeting the Keap1-Nrf2-ARE pathway, thus highlighting its therapeutic potential for ALS.

Animals↗

PubMed2025

Convergent activation of the integrated stress response and ER-mitochondria uncoupling in VAPB-associated ALS.

Vesicle-associated membrane protein-associated protein-B (VAPB) is an endoplasmic reticulum (ER) membrane-bound protein. The P56S mutation in VAPB causes a dominant, familial form of amyotrophic lateral sclerosis (ALS). However, the mechanism by which this mutation leads to motor neuron (MN) degeneration remains unclear. Utilizing inducible pluripotent stem cell (iPSC)-derived MNs expressing either wild-type (WT) or P56S VAPB, we demonstrate that the mutant protein reduces neuronal firing and disrupts ER-mitochondria-associated membranes (ER MAMs), with a time-dependent decline in mitochondrial membrane potential (MMP), hallmarks of MN pathology. These findings were validated in patient-derived iPSC-MNs. Additionally, VAPB P56S MNs show increased susceptibility to ER stress, elevated expression of the Integrated Stress Response (ISR) regulator ATF4 under stress, and reduced global protein synthesis. Notably, pharmacological ISR inhibition using ISRIB rescued ALS-associated phenotypes in both VAPB P56S and patient-derived iPSC-MNs. We present the first evidence that the VAPB P56S mutation activates ISR signaling via mitochondrial dysfunction in human MNs. These findings support ISR modulation as a strategy for ALS intervention and highlight the need for patient stratification in clinical trials.

Amyotrophic Lateral Sclerosis↗

PubMed2026

Generation of two iPSC lines from ALS patients harboring C9orf72 hexanucleotide repeat expansions.

The GGGGCC hexanucleotide repeat expansion (HRE) within the C9orf72 gene constitutes the leading genetic driver of amyotrophic lateral sclerosis (ALS). This fatal neurodegenerative disorder is characterized by the systematic loss of both the upper and lower motor neurons across both the central and peripheral nervous systems. This work describes the successful reprogramming of two human induced pluripotent stem cell (iPSC) lines originating from two independent ALS patients, both of whom carry a C9orf72 HRE mutation. Validation of the two established iPSC lines confirmed the expression of pluripotency markers, normal karyotypes, and successful trilineage differentiation. Consequently, these lines provide a robust in vitro platform to model ALS and study C9orf72-mediated disease mechanisms.

Humans↗